Variant (rsID / SNP)

rs63749910

rs63749910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,698,172. 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: 2:47698172
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
Allele change: Missense_I577T

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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