NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 26, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000589862.5

Allele description [Variation Report for NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)]

NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
HGVS:
  • NC_000002.12:g.47799064C>T
  • NG_007111.1:g.20918C>T
  • NM_000179.2:c.1081C>T
  • NM_000179.3:c.1081C>TMANE SELECT
  • NM_001281492.2:c.691C>T
  • NM_001281493.2:c.175C>T
  • NM_001281494.2:c.175C>T
  • NP_000170.1:p.Arg361Cys
  • NP_000170.1:p.Arg361Cys
  • NP_001268421.1:p.Arg231Cys
  • NP_001268422.1:p.Arg59Cys
  • NP_001268423.1:p.Arg59Cys
  • LRG_219t1:c.1081C>T
  • LRG_219:g.20918C>T
  • LRG_219p1:p.Arg361Cys
  • NC_000002.11:g.48026203C>T
  • p.R361C
Protein change:
R231C
Links:
dbSNP: rs587782651
NCBI 1000 Genomes Browser:
rs587782651
Molecular consequence:
  • NM_000179.2:c.1081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000179.3:c.1081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.175C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.175C>T - 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
SCV000889453Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Dec 18, 2017)
germlineclinical testing

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

SCV001812752GeneDxcriteria provided, single submitter
Likely benign
(Feb 26, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001812752.1

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

Description

This variant is associated with the following publications: (PMID: 24983367, 26900293)

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

Last Updated: Nov 27, 2021

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