NM_000059.4(BRCA2):c.67+1G>C AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Nov 9, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000239221.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.67+1G>C]

NM_000059.4(BRCA2):c.67+1G>C

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.67+1G>C

HGVS:

NC_000013.11:g.32316528G>C
NG_012772.3:g.6049G>C
NG_017006.2:g.3836C>G
NM_000059.4:c.67+1G>CMANE SELECT
NM_001406719.1:c.67+1G>C
NM_001406720.1:c.67+1G>C
NM_001406721.1:c.67+1G>C
NM_001406722.1:c.-303+861G>C
LRG_293t1:c.67+1G>C
LRG_293:g.6049G>C
NC_000013.10:g.32890665G>C
NM_000059.3:c.67+1G>C

Links:

dbSNP: rs81002796

NCBI 1000 Genomes Browser:

rs81002796

Molecular consequence:

NM_001406722.1:c.-303+861G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000059.4:c.67+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.67+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.67+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.67+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296565	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely pathogenic (Mar 4, 2016)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22399190, 17011978, 21063910, 26467025, 26295337
SCV002761856	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 9, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296565

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely pathogenic
(Mar 4, 2016)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002761856

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 9, 2020)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel.

Laitman Y, Simeonov M, Herskovitz L, Kushnir A, Shimon-Paluch S, Kaufman B, Zidan J, Friedman E.

Breast Cancer Res Treat. 2012 Jun;133(3):1153-7. doi: 10.1007/s10549-012-2006-8. Epub 2012 Mar 8.

PubMed [citation]

PMID:: 22399190

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, Sensi E, Falaschi E, Cipollini G, Bevilacqua G, Caligo MA.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101.

PubMed [citation]

PMID:: 17011978

See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296565.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

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

From Genetics and Molecular Pathology, SA Pathology, SCV002761856.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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