rs9606756

This is a variant in the TCN2 gene that changes a isoleucine to an valine.

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ClinVar annotation

Benign★★★☆
6 submitters4 publications

Transcobalamin II deficiency (TCN2D)

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Research that mentions this SNP (2)

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Folate and vitamin B12-related genes and risk for omphalocele
AssociationN=930James L. Mills et al.(2012)· Human Genetics

Case-control study of 169 omphalocele cases and 761 controls examining variants in folate, vitamin B12, and homocysteine metabolism genes. Variants in transcobalamin receptor (TCblR) rs2232775 (Q8R) and methylenetetrahydrofolate reductase (MTHFR) rs1801131 (1298A>C) were significantly associated with omphalocele (TCblR OR=3.20, p=0.0017; MTHFR OR=2.04, p=0.028). Additional race-ethnicity-specific associations were found with TCN2, BHMT rs3733890, and FOLH1 variants, suggesting disruption of methylation reactions as a potential risk factor.

Traits studied:Omphalocele
PubMedDOIMetascience Observatory
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Folate and one‐carbon metabolism gene polymorphisms and their associations with oral facial clefts
AssociationN=553Abee L. Boyles et al.(2008)· American Journal of Medical Genetics Part A

This family-based association study examined 12 polymorphisms in one-carbon metabolism genes (BHMT, CBS, MTHFD1, MTHFR, MTR, MTRR, SLC19A1, TCN2) and their associations with oral facial clefts in 553 Norwegian families. CBS rs234706 showed a significant maternal protective effect on cleft lip/palate risk (LRT p=0.008), with homozygous carriers of the T allele showing reduced risk (RR=0.50, 95% CI 0.26-0.96). MTHFR rs1801133 demonstrated a protective effect in the low-folate supplementation subset (RR=0.60-0.44), and maternal folic acid supplementation ≥400 μg/day was associated with 39% reduction in cleft lip/palate risk.

Traits studied:Cleft lip with or without cleft palate (CL/P)Cleft palate only (CPO)
PubMedDOIMetascience Observatory

About TCN2

This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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