NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu) AND Lynch syndrome I

Clinical significance:Uncertain significance (Last evaluated: Dec 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001257466.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)]

NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)

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.1189C>G (p.Gln397Glu)
Other names:
p.Q397E:CAA>GAA
HGVS:
  • NC_000002.12:g.47429854C>G
  • NG_007110.2:g.31731C>G
  • NM_000251.2:c.1189C>G
  • NM_000251.3:c.1189C>GMANE SELECT
  • NM_001258281.1:c.991C>G
  • NP_000242.1:p.Gln397Glu
  • NP_000242.1:p.Gln397Glu
  • NP_001245210.1:p.Gln331Glu
  • LRG_218t1:c.1189C>G
  • LRG_218:g.31731C>G
  • LRG_218p1:p.Gln397Glu
  • NC_000002.11:g.47656993C>G
  • NM_000251.1:c.1189C>G
Protein change:
Q331E
Links:
dbSNP: rs63750611
NCBI 1000 Genomes Browser:
rs63750611
Molecular consequence:
  • NM_000251.2:c.1189C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000251.3:c.1189C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.991C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome I (COCA1)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434269Division of Medical Genetics, University of Washington - CSER_CHARMcriteria provided, single submitter
Uncertain significance
(Dec 21, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Division of Medical Genetics, University of Washington - CSER_CHARM, SCV001434269.1

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

Description

To our knowledge, this sequence variant has not been previously reported in the literature. This variant has an overall allele frequency of 0.000045 in the Broad Institute gnomAD Browser (https://gnomad.broadinstitute.org/). In silico analyses indicate that this variant may not alter protein structure/function. Thus, it is unknown at this time whether this variant increases cancer risk. BP4

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

Last Updated: Nov 27, 2021

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