NM_007294.4(BRCA1):c.5153-1G>C AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Aug 10, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000031224.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.5153-1G>C]

NM_007294.4(BRCA1):c.5153-1G>C

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5153-1G>C
HGVS:
  • NC_000017.11:g.43063374C>G
  • NG_005905.2:g.154610G>C
  • NM_007294.3:c.5153-1G>C
  • NM_007294.4:c.5153-1G>CMANE SELECT
  • NM_007297.4:c.5012-1G>C
  • NM_007298.3:c.1841-1G>C
  • NM_007299.4:c.1841-1G>C
  • NM_007300.4:c.5216-1G>C
  • LRG_292t1:c.5153-1G>C
  • LRG_292:g.154610G>C
  • NC_000017.10:g.41215391C>G
  • U14680.1:n.5272-1G>C
Nucleotide change:
IVS18-1G>C
Links:
BRCA1-HCI: BRCA1_00144; Breast Cancer Information Core (BIC) (BRCA1): 5272-1&base_change=G to C; dbSNP: rs80358137
NCBI 1000 Genomes Browser:
rs80358137
Molecular consequence:
  • NM_007294.3:c.5153-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.5153-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.5012-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.3:c.1841-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1841-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5216-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
9

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
SCV000053824Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely pathogenic
(Jun 13, 2007)
germlineclinical testing

SCV000145353Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(Dec 30, 1999)
germlineclinical testing

SCV000244388Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Aug 10, 2015)
germlinecuration

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

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000296294Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Feb 17, 2015)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV000326181Consortium 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,

SCV001243692Brotman Baty Institute,University of Washingtonno assertion providednot providednot applicablein vitro

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided9not providednot providednot providedclinical testing, curation
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]
PMID:
17924331
PMCID:
PMC2265654
See all PubMed Citations (7)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053824.3

#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), SCV000145353.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3not provided1not providednot providedclinical testingnot provided
4Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided2not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 1

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#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, SCV000326181.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided9not provided

From Brotman Baty Institute,University of Washington, SCV001243692.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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