NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284178.1

Allele description [Variation Report for NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)]

NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)

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.1847C>G (p.Ser616Cys)
HGVS:
  • NC_000002.12:g.47799830C>G
  • NG_007111.1:g.21684C>G
  • NM_000179.3:c.1847C>GMANE SELECT
  • NM_001281492.2:c.1457C>G
  • NM_001281493.2:c.941C>G
  • NM_001281494.2:c.941C>G
  • NP_000170.1:p.Ser616Cys
  • NP_000170.1:p.Ser616Cys
  • NP_001268421.1:p.Ser486Cys
  • NP_001268422.1:p.Ser314Cys
  • NP_001268423.1:p.Ser314Cys
  • LRG_219t1:c.1847C>G
  • LRG_219:g.21684C>G
  • LRG_219p1:p.Ser616Cys
  • NC_000002.11:g.48026969C>G
  • NM_000179.2:c.1847C>G
Protein change:
S314C
Links:
dbSNP: rs772363120
NCBI 1000 Genomes Browser:
rs772363120
Molecular consequence:
  • NM_000179.3:c.1847C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1457C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.941C>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
SCV001469819Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jun 25, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]
PMID:
26845104

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, SCV001469819.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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