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Variant (rsID / SNP)

rs63750820

MSH2

rs63750820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,693,846. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MSH2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:47693846
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
Allele change
Synonymous_G520G

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|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.