NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000160634.4

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000211235GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211235.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted MSH2 c.1189C>G at the cDNA level, p.Gln397Glu (Q397E) at the protein level, and results in the change of a Glutamine to a Glutamic Acid (CAA>GAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign germline variant. MSH2 Gln397Glu was not observed at a significant frequency in large population cohorts (Lek 2016). This variant is located within the lever domain as well as the region of interaction with MSH6 and MSH3 (Guerrette 1998, Lutzen 2008, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether MSH2 Gln397Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Nov 27, 2021

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