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NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) AND Hereditary nonpolyposis colon cancer

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002290960.9

Allele description [Variation Report for NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)]

NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
HGVS:
  • NC_000002.12:g.47410245T>C
  • NG_007110.2:g.12122T>C
  • NM_000251.3:c.518T>CMANE SELECT
  • NM_001258281.1:c.320T>C
  • NP_000242.1:p.Leu173Pro
  • NP_000242.1:p.Leu173Pro
  • NP_001245210.1:p.Leu107Pro
  • LRG_218t1:c.518T>C
  • LRG_218:g.12122T>C
  • LRG_218p1:p.Leu173Pro
  • NC_000002.11:g.47637384T>C
  • NM_000251.1:c.518T>C
  • NM_000251.2:c.518T>C
  • P43246:p.Leu173Pro
Protein change:
L107P
Links:
UniProtKB: P43246#VAR_043751; dbSNP: rs63750070
NCBI 1000 Genomes Browser:
rs63750070
Molecular consequence:
  • NM_000251.3:c.518T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.320T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary nonpolyposis colon cancer (HNPCC)
Synonyms:
Hereditary nonpolyposis colorectal cancer; Familial nonpolyposis colon cancer; Hereditary Nonpolyposis Colorectal Cancer Syndrome
Identifiers:
MONDO: MONDO:0018630; MedGen: C1333990; OMIM: PS120435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000887336University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Shirts BH et al. (Am J Hum Genet 2018))		Likely pathogenic
(Oct 1, 2022) 		somaticclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.

Shirts BH, Konnick EQ, Upham S, Walsh T, Ranola JMO, Jacobson AL, King MC, Pearlman R, Hampel H, Pritchard CC.

Am J Hum Genet. 2018 Jul 5;103(1):19-29. doi: 10.1016/j.ajhg.2018.05.001. Epub 2018 Jun 7.

PubMed [citation]
PMID:
29887214
PMCID:
PMC6035155

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000887336.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

MSH2 NM_000251.2:c.518T>C has over 95% probability of pathogenicity based evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH2 locus and again as a germline variant paired with a single heterozygous somatic MSH2 mutation in a separate tumor. See Shirts et al 2018, PMID 29887214.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024