NM_007294.4(BRCA1):c.5427dup (p.Val1810fs) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Dec 15, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000661209.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)]

NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
HGVS:
  • NC_000017.11:g.43047684dup
  • NG_005905.2:g.170301dup
  • NM_007294.4:c.5427dupMANE SELECT
  • NM_007297.4:c.5286dup
  • NM_007298.3:c.2115dup
  • NM_007299.4:c.2041dup
  • NM_007300.4:c.5490dup
  • NP_009225.1:p.Val1810fs
  • NP_009228.2:p.Val1763fs
  • NP_009229.2:p.Val706fs
  • NP_009230.2:p.Cys681fs
  • NP_009231.2:p.Val1831fs
  • LRG_292:g.170301dup
  • NC_000017.10:g.41199701dup
  • NM_007294.3:c.5427dupT
  • NR_027676.2:n.5604dup
  • p.(Val1810CysfsTer20)
Protein change:
C681fs
Links:
dbSNP: rs1555574739
NCBI 1000 Genomes Browser:
rs1555574739
Molecular consequence:
  • NM_007294.4:c.5427dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5286dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2041dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5490dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5604dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000783469Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMAreviewed by expert panel
Pathogenic
(Dec 15, 2017)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2021

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