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Variant (rsID / SNP)

rs63750466

MSH2

rs63750466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,630,334. Clinical significance in the table: Likely benign.

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Reference-table entries

MSH2Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:47630334
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
Allele change
Missense_A2T

Associated conditions / phenotypes

Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Breast carcinoma|Malignant tumor of breast

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.