NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Jun 29, 2017
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000495522.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)]

NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)

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.8010G>A (p.Ser2670=)

Other names:

NP_000050.3:p.Ser2670=

HGVS:

NC_000013.11:g.32363212G>A
NG_012772.3:g.52733G>A
NM_000059.4:c.8010G>AMANE SELECT
NP_000050.2:p.Ser2670=
NP_000050.3:p.Ser2670=
LRG_293t1:c.8010G>A
LRG_293:g.52733G>A
LRG_293p1:p.Ser2670=
NC_000013.10:g.32937349G>A
NM_000059.3:c.8010G>A
NM_000059.4:c.8010G>A
p.S2670S
p.Ser2670Ser

Links:

dbSNP: rs146430937

NCBI 1000 Genomes Browser:

rs146430937

Molecular consequence:

NM_000059.4:c.8010G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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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Rattus norvegicus guanine nucleotide binding protein-like 2 (nucleolar), mRNA (c...
Rattus norvegicus guanine nucleotide binding protein-like 2 (nucleolar), mRNA (cDNA clone MGC:116342 IMAGE:7382617), complete cds
gi|68534383|gb|BC099173.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579152	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Likely benign (Jun 29, 2017)	germline	curation	Citation Link,
SCV000785077	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Apr 5, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25971625, 28263838 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV004016896	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 7, 2023)	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

SCV000579152

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))

Likely benign
(Jun 29, 2017)

germline

curation

Citation Link,

SCV000785077

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Apr 5, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004016896

KCCC/NGS Laboratory, Kuwait Cancer Control Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 7, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer.

Muendlein A, Rohde BH, Gasser K, Haid A, Rauch S, Kinz E, Drexel H, Hofmann W, Schindler V, Kapoor R, Decker T, Lang AH.

J Cancer Res Clin Oncol. 2015 Nov;141(11):2005-12. doi: 10.1007/s00432-015-1986-2. Epub 2015 May 15.

PubMed [citation]

PMID:: 25971625

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

Zanella I, Merola F, Biasiotto G, Archetti S, Spinelli E, Di Lorenzo D.

Exp Mol Pathol. 2017 Apr;102(2):314-320. doi: 10.1016/j.yexmp.2017.03.001. Epub 2017 Mar 2.

PubMed [citation]

PMID:: 28263838

See all PubMed Citations (3)

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000579152.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

#	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 Counsyl, SCV000785077.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016896.1

#	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: Oct 13, 2024

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