NM_000179.2(MSH6):c.3847_3850dupATTA (p.Thr1284Asnfs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000214756.2

Allele description

NM_000179.2(MSH6):c.3847_3850dupATTA (p.Thr1284Asnfs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.3847_3850dupATTA (p.Thr1284Asnfs)
HGVS:
  • NC_000002.12:g.47806497_47806500dupATTA
  • NG_007111.1:g.28351_28354dupATTA
  • NM_000179.2:c.3847_3850dupATTA
  • NP_000170.1:p.Thr1284Asnfs
  • LRG_219t1:c.3847_3850dupATTA
  • LRG_219:g.28351_28354dupATTA
  • LRG_219p1:p.Thr1284Asnfs
  • NC_000002.11:g.48033636_48033639dupATTA
  • NM_000179.2:c.3847_3850dup
Links:
dbSNP: rs267608128
NCBI 1000 Genomes Browser:
rs267608128
Molecular consequence:
  • NM_000179.2:c.3847_3850dupATTA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000273206Ambry Geneticscriteria provided, single submitter
Pathogenic
(Apr 27, 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, SCV000273206.3

#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: Jun 24, 2017