rs2298758

neutralMag 1.5

This is a synonymous variant in the CBS gene — it does not change the protein's amino acid sequence.

Key Literature Trait Associations

Transsulfuration Pathway

The CBS N212N variant (rs2298758) is a very rare synonymous polymorphism in cystathionine beta-synthase (~0.1% global frequency). Due to its rarity, there is very limited published evidence for any independent clinical significance.

Tilley MM et al. “Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.” Birth Defects Research. Part A, Clinical and Molecular Teratology (2012)

Allele A

OR —

p —

N 96

Candidate gene study

European and Hispanic

Aras O et al. “Influence of 699C-->T and 1080C-->T polymorphisms of the cystathionine beta-synthase gene on plasma homocysteine levels.” Clinical Genetics 58(6):455-459 (2000)

Allele A

OR —

p 3.0e-1

Candidate gene study

Susan H. Blanton et al. “Folate pathway and nonsyndromic cleft lip and palate” Birth Defects Research Part A: Clinical and Molecular Teratology (2011)

Allele A

OR —

p —

Candidate gene study

European and Hispanic

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ClinVar annotation

Benign★★★☆

2 submitters3 publications

CBS-related disorder; Classic homocystinuria; Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissection (TAAD); HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Folate pathway and nonsyndromic cleft lip and palate

AssociationN=445Susan H. Blanton et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology

This family-based association study examined 14 folate pathway genes using 89 SNPs in 445 NSCLP families (317 non-Hispanic White, 128 Hispanic) to identify genetic variants contributing to nonsyndromic cleft lip and palate. Evidence for association was found with SNPs in NOS3 and TYMS in the non-Hispanic White group (rs2373929/NOS3, rs502396/TYMS, and others), and with MTR, BHMT2, MTHFS, and SLC19A1 in the Hispanic group (rs1422086/BHMT2, rs2115540/MTHFS significant after Bonferroni correction). Multiple gene-gene interactions were detected, with CBS and MTHFD1 showing the most extensive interactions. Significant interactions were also found between several SNPs and maternal smoking and one SNP (rs651646/FOLR2) with offspring sex.

rs2298758

Key Literature Trait Associations

Transsulfuration Pathway

ClinVar annotation

Research that mentions this SNP (1)

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