NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000129450.3

Allele description

NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs)
HGVS:
  • NC_000017.11:g.43099810dupA
  • NG_005905.2:g.118174dupT
  • NM_007294.3:c.512dupT
  • NP_009225.1:p.Gln172Thrfs
  • LRG_292t1:c.512dupT
  • LRG_292:g.118174dupT
  • LRG_292p1:p.Gln172Thrfs
  • NC_000017.10:g.41251827dupA
  • NR_027676.1:n.648dupT
  • p.I171IFS*11
Links:
dbSNP: rs587781487
NCBI 1000 Genomes Browser:
rs587781487
Molecular consequence:
  • NM_007294.3:c.512dupT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.1:n.648dupT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]
Observations:
1

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
SCV000184220Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 27, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000184220.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 21, 2018