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

Clinical significance:Uncertain significance (Last evaluated: Nov 20, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210205.3

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_000179.2:c.1847C>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
Protein change:
S314C
Links:
dbSNP: rs772363120
NCBI 1000 Genomes Browser:
rs772363120
Molecular consequence:
  • NM_000179.2:c.1847C>G - missense variant - [Sequence Ontology: SO:0001583]
  • 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]
Observations:
1

Condition(s)

Name:
Lynch syndrome
Synonyms:
Familial nonpolyposis colon cancer
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100; OMIM: PS120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000266203University of Washington Department of Laboratory Medicine, University of Washingtoncriteria provided, single submitter
Uncertain significance
(Nov 20, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266203.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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