BCAS1
brain enriched myelin associated protein 1
Summary
This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs752786931 | 20:52,561,519 | A/G | — | likely benign |
| rs147771144 | 20:52,561,526 | G/A | — | uncertain significance |
| rs200870946 | 20:52,569,987 | C/T | — | uncertain significance |
| rs2516073250 | 20:52,570,033 | C/G | — | uncertain significance |
| rs6127031 | 20:52,570,040 | C/G | — | uncertain significance |
| rs61333971 | 20:52,570,052 | C/T | — | benign |
| rs202134310 | 20:52,570,198 | C/G | — | uncertain significance |
| rs145068978 | 20:52,570,203 | G/A | — | uncertain significance |
| rs3746788 | 20:52,570,229 | T/C | — | benign |
| rs147195366 | 20:52,574,046 | C/T | — | benign |
| rs753600225 | 20:52,583,461 | G/A | — | uncertain significance |
| rs139595442 | 20:52,583,537 | C/T | — | uncertain significance |
| rs2516248702 | 20:52,583,543 | G/T | — | uncertain significance |
| rs368202526 | 20:52,583,606 | A/C | — | uncertain significance |
| rs894758635 | 20:52,591,942 | C/G | — | uncertain significance |
| rs199964006 | 20:52,591,969 | A/G | — | uncertain significance |
| rs772299930 | 20:52,601,879 | T/G | — | uncertain significance |
| rs760970362 | 20:52,602,002 | T/G | — | uncertain significance |
| rs2090593317 | 20:52,602,020 | T/C | — | likely benign |
| rs2276498 | 20:52,610,496 | C/G | intron variant | — |
| rs1169122886 | 20:52,611,573 | G/C | — | uncertain significance |
| rs759239287 | 20:52,612,448 | T/C | — | uncertain significance |
| rs760251505 | 20:52,612,454 | T/C | — | uncertain significance |
| rs1320707557 | 20:52,612,462 | T/C | — | uncertain significance |
| rs750650918 | 20:52,612,493 | C/T | — | uncertain significance |
| rs55901013 | 20:52,642,793 | C/G | — | — |
| rs775065320 | 20:52,645,047 | C/T | — | uncertain significance |
| rs61749688 | 20:52,645,114 | T/C | — | benign |
| rs77726302 | 20:52,645,142 | G/A | — | benign |
| rs753420412 | 20:52,645,155 | C/T | — | likely benign |
| rs1194222159 | 20:52,645,257 | C/G | — | uncertain significance |
| rs373986689 | 20:52,645,337 | C/T | — | uncertain significance |
| rs139488468 | 20:52,645,362 | T/A | — | uncertain significance |
| rs75689739 | 20:52,645,454 | G/A | — | likely benign |
| rs373877569 | 20:52,645,461 | C/T | — | likely benign |
| rs201469401 | 20:52,645,475 | G/C | — | uncertain significance |
| rs76481467 | 20:52,645,487 | G/A | — | benign |
| rs371937753 | 20:52,645,496 | C/T | — | uncertain significance |
| rs73132911 | 20:52,661,068 | T/C | regulatory region variant | — |
| rs200811465 | 20:52,674,660 | C/G | — | uncertain significance |
| rs770776723 | 20:52,674,662 | A/C | — | uncertain significance |
| rs3787547 | 20:52,684,438 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.