NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: May 10, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001016813.1

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:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001177811Ambry Geneticscriteria provided, single submitter
Pathogenic
(May 10, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Details of each submission

From Ambry Genetics, SCV001177811.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.2861dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 2861, causing a translational frameshift with a predicted alternate stop codon (p.S955Ifs*16). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 18, 2021

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