Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs145649774

MSH2

rs145649774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,637,248. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MSH2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:47637248
Cytoband
2p21
HGVS
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
Allele change
Missense_L128V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Endometrial carcinoma

Public references

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