NM_007294.4(BRCA1):c.1510del (p.Arg504fs) 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:
4 submissions [Details]
Record status:
current
Accession:
RCV000030999.6

Allele description

NM_007294.4(BRCA1):c.1510del (p.Arg504fs)

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.1510del (p.Arg504fs)
HGVS:
  • NC_000017.11:g.43094021del
  • NG_005905.2:g.123963del
  • NM_007294.4:c.1510delMANE SELECT
  • NM_007297.4:c.1369del
  • NM_007298.3:c.787+723del
  • NM_007299.4:c.787+723del
  • NM_007300.4:c.1510del
  • NP_009225.1:p.Arg504fs
  • NP_009228.2:p.Arg457fs
  • NP_009231.2:p.Arg504fs
  • LRG_292:g.123963del
  • NC_000017.10:g.41246038del
  • NC_000017.10:g.41246038delG
  • NM_007294.3:c.1510delC
  • NM_007294.4:c.1510delCMANE SELECT
  • NR_027676.2:n.1687del
  • U14680.1:n.1629delC
  • p.R504VFS*28
Nucleotide change:
1629delC
Protein change:
R457fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 1629&base_change=del C; dbSNP: rs80357908
NCBI 1000 Genomes Browser:
rs80357908
Molecular consequence:
  • NM_007294.4:c.1510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.1369del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.1510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+723del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+723del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.1687del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

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
SCV000053591Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(Aug 17, 2011)
germlineclinical testing

SCV000144118Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(Jul 19, 2006)
germlineclinical testing

SCV000299611Evidence-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,

SCV000325089Consortium 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 providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided3not providednot providednot providedclinical testing, curation
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053591.3

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144118.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299611.2

#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, SCV000325089.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided3not provided

Last Updated: Apr 1, 2021

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