NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000048040.3

Allele description

NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs)
HGVS:
  • NC_000017.11:g.43092522_43092523delAA
  • NG_005905.2:g.125461_125462delTT
  • NM_007294.3:c.3008_3009delTT
  • NM_007298.3:c.788-1491_788-1490delTT
  • NP_009225.1:p.Phe1003Terfs
  • LRG_292t1:c.3008_3009delTT
  • LRG_292:g.125461_125462delTT
  • LRG_292p1:p.Phe1003Terfs
  • NC_000017.10:g.41244539_41244540delAA
  • NM_007294.3:c.3008_3009del
  • NR_027676.1:n.3144_3145delTT
  • U14680.1:n.3127_3128delTT
  • p.F1003*
Nucleotide change:
3127delTT
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3127&base_change=del TT; dbSNP: rs80357617
NCBI 1000 Genomes Browser:
rs80357617
Molecular consequence:
  • NM_007294.3:c.3008_3009delTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-1491_788-1490delTT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.3144_3145delTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MedGen: C0677776; Orphanet: 145
Prevalence:
http://www.ncbi.nlm.nih.gov/books/NBK1247/ https://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000076053Invitaecriteria provided, single submitter
Pathogenic
(Nov 6, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Invitae, SCV000076053.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This sequence change deletes 2 nucleotides from exon 10 of the BRCA1 mRNA (c.3008_3009delTT), causing a frameshift at codon 1003. This creates a premature translational stop signal (p.Phe1003*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in an individual with breast cancer (PMID: 26187060). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jul 5, 2017