NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236371.2

Allele description [Variation Report for NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)]

NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)

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.118G>A (p.Gly40Ser)
HGVS:
  • NC_000002.12:g.47403309G>A
  • NG_007110.2:g.5186G>A
  • NM_000251.3:c.118G>AMANE SELECT
  • NM_001258281.1:c.-30-51G>A
  • NP_000242.1:p.Gly40Ser
  • NP_000242.1:p.Gly40Ser
  • LRG_218t1:c.118G>A
  • LRG_218:g.5186G>A
  • LRG_218p1:p.Gly40Ser
  • NC_000002.11:g.47630448G>A
  • NM_000251.1:c.118G>A
  • NM_000251.2:c.118G>A
  • P43246:p.Gly40Ser
Protein change:
G40S
Links:
UniProtKB: P43246#VAR_043739; dbSNP: rs63751260
NCBI 1000 Genomes Browser:
rs63751260
Molecular consequence:
  • NM_001258281.1:c.-30-51G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000251.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293503GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 14, 2019)
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, SCV000293503.10

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12792735, 26380806, 31386297)

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

Last Updated: Dec 4, 2021

Support Center