NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 15, 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:: RCV000238797.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)]

NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)

HGVS:

NC_000013.11:g.32319090_32319092delinsTAAGACT
NG_012772.3:g.8611_8613delinsTAAGACT
NG_017006.2:g.1272_1274delinsAGTCTTA
LRG_293t1:c.81_83delinsTAAGACT
LRG_293:g.8611_8613delinsTAAGACT
LRG_293p1:p.Ser28fs
NC_000013.10:g.32893227_32893229delinsTAAGACT
p.(Ser28LysfsTer4)

Links:

dbSNP: rs879255300

NCBI 1000 Genomes Browser:

rs879255300

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
SCV000296506	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely pathogenic (May 21, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26467025, 26295337
SCV000784115	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Pathogenic (Dec 15, 2017)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296506

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely pathogenic
(May 21, 2016)

germline

clinical testing

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

SCV000784115

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

reviewed by expert panel

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

Pathogenic
(Dec 15, 2017)

germline

curation

Citation Link

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, curation

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.

PLoS One. 2015;10(8):e0136419. doi: 10.1371/journal.pone.0136419.

PubMed [citation]

PMID:: 26295337
PMCID:: PMC4546651

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296506.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000784115.1

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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

Last Updated: Mar 30, 2024

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