NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely pathogenic (Last evaluated: Nov 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:
RCV000213123.1

Allele description

NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs)
HGVS:
  • NC_000002.12:g.214728709_214728710delCA
  • NG_012047.2:g.85995_85996delTG
  • NM_000465.3:c.2300_2301delTG
  • NP_000456.2:p.Val767Aspfs
  • NC_000002.11:g.215593433_215593434delCA
  • NM_000465.2:c.2300_2301delTG
  • NR_104212.1:n.2293_2294delTG
Links:
dbSNP: rs750413473
NCBI 1000 Genomes Browser:
rs750413473
Allele Frequency:
0.00006(-)
Molecular consequence:
  • NM_000465.3:c.2300_2301delTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_104212.1:n.2293_2294delTG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000274099Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 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, SCV000274099.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 15, 2017