NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000111881.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)]

NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)
Other names:
2626delAA
HGVS:
  • NC_000017.11:g.43093023_43093024del
  • NG_005905.2:g.124960_124961del
  • NM_007294.4:c.2507_2508delMANE SELECT
  • NM_007297.4:c.2366_2367del
  • NM_007298.3:c.787+1720_787+1721del
  • NM_007299.4:c.787+1720_787+1721del
  • NM_007300.4:c.2507_2508del
  • NP_009225.1:p.Glu836fs
  • NP_009228.2:p.Glu789fs
  • NP_009231.2:p.Glu836fs
  • LRG_292:g.124960_124961del
  • NC_000017.10:g.41245040_41245041del
  • NM_007294.3:c.2507_2508delAA
  • NM_007294.4:c.2507_2508delAAMANE SELECT
  • NR_027676.2:n.2684_2685del
  • U14680.1:n.2626_2627delAA
Protein change:
E789fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2626&base_change=del AA; dbSNP: rs273899686
NCBI 1000 Genomes Browser:
rs273899686
Molecular consequence:
  • NM_007294.4:c.2507_2508del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2366_2367del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2507_2508del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1720_787+1721del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1720_787+1721del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2684_2685del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

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
SCV000144461Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Dec 10, 2009)
germlineclinical testing

SCV000299780Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000325378Consortium 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 provided2not providednot providednot providedclinical testing, curation
Caucasiangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299780.2

#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, SCV000325378.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided2not provided

Last Updated: Sep 18, 2021

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