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NM_000251.3(MSH2):c.187dup (p.Val63fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV000570107.3

Allele description [Variation Report for NM_000251.3(MSH2):c.187dup (p.Val63fs)]

NM_000251.3(MSH2):c.187dup (p.Val63fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.187dup (p.Val63fs)
HGVS:
  • NC_000002.12:g.47403378dup
  • NG_007110.2:g.5255dup
  • NM_000251.3:c.187dupMANE SELECT
  • NM_001258281.1:c.-12dup
  • NP_000242.1:p.Val63fs
  • LRG_218:g.5255dup
  • NC_000002.11:g.47630512_47630513insG
  • NC_000002.11:g.47630517dup
  • NM_000251.1:c.187dup
  • NM_000251.1:c.187dupG
Protein change:
V63fs
Links:
dbSNP: rs63750160
NCBI 1000 Genomes Browser:
rs63750160
Molecular consequence:
  • NM_001258281.1:c.-12dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000251.3:c.187dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000669859Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 22, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes.

Huang RL, Chao CF, Ding DC, Yu CP, Chang CC, Lai HC, Yu MH, Liu HS, Chu TY.

Cancer Genet Cytogenet. 2004 Sep;153(2):108-14.

PubMed [citation]
PMID:
15350299

Details of each submission

From Ambry Genetics, SCV000669859.5

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

Description

The c.187dupG pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from a duplication of G at nucleotide position 187, causing a translational frameshift with a predicted alternate stop codon (p.V63Gfs*19). This mutation, designated as "G5>G6 frameshift at 183-187," was identified in a Taiwanese HNPCC family meeting Amsterdam II criteria (Huang RL et al. Cancer Genet. Cytogenet. 2004 Sep;153:108-14). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024