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NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) AND Lynch syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 14, 2020
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:
RCV000503476.3

Allele description [Variation Report for NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)]

NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)

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.211G>C (p.Gly71Arg)
HGVS:
  • NC_000002.12:g.47403402G>C
  • NG_007110.2:g.5279G>C
  • NM_000251.3:c.211G>CMANE SELECT
  • NM_001258281.1:c.13G>C
  • NP_000242.1:p.Gly71Arg
  • NP_000242.1:p.Gly71Arg
  • NP_001245210.1:p.Gly5Arg
  • LRG_218t1:c.211G>C
  • LRG_218:g.5279G>C
  • LRG_218p1:p.Gly71Arg
  • NC_000002.11:g.47630541G>C
  • NM_000251.1:c.211G>C
  • NM_000251.2:c.211G>C
  • p.G71R
Protein change:
G5R
Links:
dbSNP: rs587782659
NCBI 1000 Genomes Browser:
rs587782659
Molecular consequence:
  • NM_000251.3:c.211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.13G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001337820Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Jan 14, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC.

PLoS One. 2017;12(2):e0170843. doi: 10.1371/journal.pone.0170843.

PubMed [citation]
PMID:
28152038
PMCID:
PMC5289469

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.

J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.

PubMed [citation]
PMID:
28514183
PMCID:
PMC7186580
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001337820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: MSH2 c.211G>C (p.Gly71Arg) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutS-like, N-terminal domain (IPR007695) of the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function and weakens a 5' donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing and results in aberrant transcript which is predicted to generate a truncated protein (p.Tyr66Serfs*10) (Vargas-Parra_2017). The variant was absent in 218268 control chromosomes (gnomAD). c.211G>C has been reported in the literature in individuals affected with Lynch Syndrome, including one family suggesting co-segregation of the variant and the disease (Vargas-Parra_2017). Three ClinVar submitters (evaluation after 2014) cite the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Sep 29, 2024