DMBT1

deleted in malignant brain tumors 1

Summary

Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]

Known Variants259 total

rsidPosition (GRCh37)AllelesClassClinVar
rs301948710:124,319,752A/G——
rs298174510:124,320,194T/C5 prime UTR variant—
rs7561014810:124,320,300C/A—likely benign
rs301952110:124,326,243T/Aintron variant—
rs1152387110:124,329,710C/Gmissense variant—
rs7520939610:124,330,421C/G—benign
rs301323610:124,330,427C/Tmissense variant—
rs18504570610:124,331,836C/T—likely benign
rs56877078110:124,331,874G/A—uncertain significance
rs77527423810:124,333,275G/C—uncertain significance
rs298180410:124,333,656G/Aintron variantbenign
rs139211585210:124,335,923T/C—uncertain significance
rs75440504310:124,335,926G/A—uncertain significance
rs20193077710:124,335,982C/G—uncertain significance
rs37729966510:124,335,993G/C—uncertain significance
rs77630273110:124,336,110G/A—uncertain significance
rs20059036510:124,336,140G/A—uncertain significance
rs249779091510:124,336,170G/T—uncertain significance
rs77967508110:124,336,190C/A—uncertain significance
rs133267719710:124,336,211G/C—uncertain significance
rs20024564110:124,337,345C/T—uncertain significance
rs209773576310:124,338,260C/T—uncertain significance
rs74983681010:124,339,138A/G—uncertain significance
rs76555097010:124,339,151G/A—uncertain significance
rs74919608810:124,339,169G/A—likely benign
rs77422991910:124,339,181G/A—uncertain significance
rs77290721910:124,339,184C/A—uncertain significance
rs124093198910:124,339,207A/G—uncertain significance
rs14978869810:124,339,217C/T—benign
rs74663514310:124,339,249T/G—uncertain significance
rs76578800210:124,339,271A/G—likely benign
rs37301930610:124,339,289G/A—uncertain significance
rs56630749010:124,339,319G/A—uncertain significance
rs249781176010:124,339,361A/G—uncertain significance
rs20030883910:124,339,408A/G—uncertain significance
rs48335273410:124,340,390T/C—uncertain significance
rs74946269210:124,340,421C/T—likely benign
rs55902770110:124,343,874C/T—likely benign
rs159129670410:124,344,800C/T—likely benign
rs37121715810:124,344,817C/T—uncertain significance
rs20113035310:124,344,823T/C—uncertain significance
rs18756662010:124,344,832A/T—likely benign
rs77744951110:124,345,600G/A—uncertain significance
rs249784198510:124,345,610T/C—likely benign
rs249784219310:124,345,634A/G—likely benign
rs209778718510:124,345,646A/G—likely benign
rs37463524010:124,345,651G/A—likely benign
rs76066537210:124,345,654G/A—uncertain significance
rs20181651410:124,345,664C/A—likely benign
rs54653196810:124,345,668G/A—uncertain significance
rs75555820510:124,345,676T/C—likely benign
rs301321610:124,345,688C/T—likely benign
rs213356888710:124,345,694T/C—likely benign
rs148594636510:124,345,697T/C—likely benign
rs159130523210:124,345,703T/C—likely benign
rs19957593110:124,345,741T/C—likely benign
rs209778815910:124,345,743G/C—uncertain significance
rs209778817010:124,345,744C/T—uncertain significance
rs20071356810:124,345,753A/G—likely benign
rs37730224610:124,345,759G/A—uncertain significance
rs18342425310:124,345,797G/A—uncertain significance
rs37339552210:124,345,801G/A—uncertain significance
rs77191608110:124,345,821T/C—uncertain significance
rs76267192310:124,345,868C/G—likely benign
rs36786870110:124,345,871T/C—likely benign
rs134082081710:124,345,885G/A—uncertain significance
rs56932395010:124,347,616G/A—likely benign
rs37230892410:124,348,462C/T—uncertain significance
rs209782147910:124,348,485G/A—likely benign
rs249786060810:124,348,504A/G—uncertain significance
rs20214442310:124,348,517G/A—likely benign
rs54556750710:124,348,577A/G—uncertain significance
rs249786156610:124,348,578T/C—likely benign
rs18630319410:124,348,579G/A—benign
rs249786158910:124,348,581T/C—likely benign
rs76672493510:124,348,587T/C—likely benign
rs76536108210:124,348,592T/C—uncertain significance
rs18947843710:124,348,622C/T—likely benign
rs77850769210:124,348,623G/T—likely benign
rs249786227510:124,348,647T/C—likely benign
rs249786245110:124,348,662A/G—likely benign
rs75613451110:124,348,677T/C—likely benign
rs13884280610:124,348,678G/A—benign
rs123931737910:124,348,680T/C—likely benign
rs227723710:124,348,684C/T—benign
rs2849343910:124,348,685G/T—benign
rs37758544110:124,348,694G/A—uncertain significance
rs126450848610:124,348,695A/C—likely benign
rs93181218410:124,348,714A/G—uncertain significance
rs57444172410:124,348,715G/A—likely benign
rs37488925110:124,348,727A/G—uncertain significance
rs76638982010:124,348,743C/T—likely benign
rs36869541810:124,348,756C/T—uncertain significance
rs101461314910:124,348,763A/T—uncertain significance
rs76494446410:124,348,764T/C—likely benign
rs74656726610:124,348,775T/C—uncertain significance
rs102185940610:124,350,199C/T—uncertain significance
rs103625597410:124,350,206G/T—uncertain significance
rs20132088710:124,350,998C/T—uncertain significance
rs18922606010:124,351,002G/A—likely benign

Showing 100 of 259 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.