NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000257600.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)]

NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)

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.2861dup (p.Ser955fs)
Other names:
2980dupT
HGVS:
  • NC_000017.11:g.43092670dup
  • NG_005905.2:g.125314dup
  • NM_007294.4:c.2861dupMANE SELECT
  • NM_007297.4:c.2720dup
  • NM_007298.3:c.788-1638dup
  • NM_007299.4:c.788-1638dup
  • NM_007300.4:c.2861dup
  • NP_009225.1:p.Ser955fs
  • NP_009228.2:p.Ser908fs
  • NP_009231.2:p.Ser955fs
  • LRG_292:g.125314dup
  • NC_000017.10:g.41244686_41244687insA
  • NC_000017.10:g.41244687dup
  • NM_007294.3:c.2861dupT
  • NM_007294.4:c.2861dupTMANE SELECT
  • NR_027676.2:n.3038dup
  • p.Ser955fs
Protein change:
S908fs
Links:
dbSNP: rs886040079
NCBI 1000 Genomes Browser:
rs886040079
Molecular consequence:
  • NM_007294.4:c.2861dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2720dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2861dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-1638dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1638dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.3038dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000323528Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Oct 18, 2016)
germlinecuration

Citation Link,

SCV000325480Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323528.1

#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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325480.3

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

Last Updated: Sep 18, 2021

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