NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000131743.5

Allele description

NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter)
Other names:
p.R1331*:CGA>TGA
HGVS:
  • NC_000002.12:g.47806641C>T
  • NG_007111.1:g.28495C>T
  • NM_000179.2:c.3991C>T
  • NP_000170.1:p.Arg1331Ter
  • LRG_219t1:c.3991C>T
  • LRG_219:g.28495C>T
  • LRG_219p1:p.Arg1331Ter
  • NC_000002.11:g.48033780C>T
  • c.3991C>T
  • p.Arg1331X
  • p.R1331*
Protein change:
R1331*
Links:
dbSNP: rs267608094
NCBI 1000 Genomes Browser:
rs267608094
Molecular consequence:
  • NM_000179.2:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000186784Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jan 15, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000186784.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2017

Support Center