NM_000251.2(MSH2):c.2211-10T>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000478566.2

Allele description [Variation Report for NM_000251.2(MSH2):c.2211-10T>A]

NM_000251.2(MSH2):c.2211-10T>A

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.2211-10T>A
HGVS:
  • NC_000002.12:g.47478262T>A
  • NG_007110.2:g.80139T>A
  • NM_000251.2:c.2211-10T>A
  • NM_001258281.1:c.2013-10T>A
  • LRG_218t1:c.2211-10T>A
  • LRG_218:g.80139T>A
  • NC_000002.11:g.47705401T>A
  • NM_000251.1:c.2211-10T>A
Links:
dbSNP: rs267608006
NCBI 1000 Genomes Browser:
rs267608006
Molecular consequence:
  • NM_000251.2:c.2211-10T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.2013-10T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000569683GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 13, 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, SCV000569683.5

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

Description

This variant is denoted MSH2 c.2211-10T>A or IVS13-10T>A and consists of a T>A nucleotide substitution at the -10 position of intron 13 of the MSH2 gene. In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has been observed in at least one individual with a personal history of colorectal cancer, a sebaceous adenoma, melanoma, and prostate cancer, as well as a family history of colorectal cancer (Mangold 2007). Immunohistochemistry performed on a tumor from this individual revealed absence of the MSH2 and MSH6 proteins. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether MSH2 c.2211-10T>A 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: Apr 12, 2021

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