NM_007294.3(BRCA1):c.5075-1G>A AND Breast-ovarian cancer, familial 1

This record was updated by the submitter. Please see the current version.

Clinical significance:Likely pathogenic (Last evaluated: May 4, 2017)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000112485.3

Allele description

NM_007294.3(BRCA1):c.5075-1G>A

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.5075-1G>A

Other names:

IVS17-1G>A

HGVS:

NC_000017.11:g.43063952C>T
NG_005905.2:g.154032G>A
NM_007294.3:c.5075-1G>A
NM_007297.4:c.4934-1G>A
NM_007298.3:c.1763-1G>A
NM_007299.4:c.1763-1G>A
NM_007300.4:c.5138-1G>A
LRG_292t1:c.5075-1G>A
LRG_292:g.154032G>A
NC_000017.10:g.41215969C>T
U14680.1:n.5194-1G>A

Links:

Breast Cancer Information Core (BIC) (BRCA1): 5194-1&base_change=G to A; dbSNP: rs1800747

NCBI 1000 Genomes Browser:

rs1800747

Molecular consequence:

NM_007294.3:c.5075-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007297.4:c.4934-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.3:c.1763-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.1763-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.5138-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

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:: MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145296	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Jun 22, 1999)	germline	clinical testing
SCV000677656	Counsyl	criteria provided, single submitter Counsyl Autosomal Dominant Disease Classification criteria (2015)	Likely pathogenic (May 4, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20859677, 27433846, 2152385 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000145296

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic
(Jun 22, 1999)

germline

clinical testing

SCV000677656

Counsyl

criteria provided, single submitter

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Likely pathogenic
(May 4, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L.

Breast Cancer Res Treat. 2011 Apr;126(3):705-16. doi: 10.1007/s10549-010-1170-y. Epub 2010 Sep 22.

PubMed [citation]

PMID:: 20859677

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, et al.

N Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6.

PubMed [citation]

PMID:: 27433846
PMCID:: PMC4986616

See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145296.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Ashkenazi	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000677656.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2020

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