NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) AND Hereditary nonpolyposis colorectal cancer type 5

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412088.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)]

NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)

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.2827G>T (p.Asp943Tyr)
Other names:
p.D943Y:GAC>TAC
HGVS:
  • NC_000002.12:g.47800810G>T
  • NG_007111.1:g.22664G>T
  • NM_000179.2:c.2827G>T
  • NM_000179.3:c.2827G>TMANE SELECT
  • NM_001281492.2:c.2437G>T
  • NM_001281493.2:c.1921G>T
  • NM_001281494.2:c.1921G>T
  • NP_000170.1:p.Asp943Tyr
  • NP_000170.1:p.Asp943Tyr
  • NP_001268421.1:p.Asp813Tyr
  • NP_001268422.1:p.Asp641Tyr
  • NP_001268423.1:p.Asp641Tyr
  • LRG_219t1:c.2827G>T
  • LRG_219:g.22664G>T
  • LRG_219p1:p.Asp943Tyr
  • NC_000002.11:g.48027949G>T
  • p.D943Y
Protein change:
D641Y
Links:
dbSNP: rs143520357
NCBI 1000 Genomes Browser:
rs143520357
Molecular consequence:
  • NM_000179.2:c.2827G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000179.3:c.2827G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.2437G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary nonpolyposis colorectal cancer type 5 (HNPCC5)
Synonyms:
Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000489142Counsylcriteria provided, single submitter
Uncertain significance
(Aug 23, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627

Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Grant RC, Selander I, Connor AA, Selvarajah S, Borgida A, Briollais L, Petersen GM, Lerner-Ellis J, Holter S, Gallinger S.

Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.

PubMed [citation]
PMID:
25479140
PMCID:
PMC4339623

Details of each submission

From Counsyl, SCV000489142.1

#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: Oct 30, 2021

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