NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Dec 22, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000113115.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)]

NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)

Other names:

p.S976I:TCC>ATC

HGVS:

NC_000013.11:g.32337281_32337282delinsAT
NG_012772.3:g.26802_26803delinsAT
NM_000059.4:c.2926_2927delinsATMANE SELECT
NP_000050.3:p.Ser976Ile
LRG_293:g.26802_26803delinsAT
NC_000013.10:g.32911418_32911419delinsAT
NM_000059.3:c.2926_2927delTCinsAT
NM_000059.4:c.2926_2927delinsAT
U43746.1:n.3154_3155delTCinsAT
p.S976I

Protein change:

S976I

Links:

dbSNP: rs276174831

NCBI 1000 Genomes Browser:

rs276174831

Molecular consequence:

NM_000059.4:c.2926_2927delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

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COP9 (constitutive photomorphogenic) homolog, subunit 7a (Arabidopsis thaliana) ...
COP9 (constitutive photomorphogenic) homolog, subunit 7a (Arabidopsis thaliana) (predicted) [Rattus norvegicus]
gi|149049450|gb|EDM01904.1||gnl|WGS |rCP31374

Protein
FM059742 etcmkid Rattus norvegicus cDNA clone etcmkidP0004O13 5', mRNA sequence
FM059742 etcmkid Rattus norvegicus cDNA clone etcmkidP0004O13 5', mRNA sequence
gi|207939252|gnl|dbEST|61350262|emb 9742.1|

Nucleotide
essv6675620 (2)
dbVar
essv6695356 (3)
dbVar
essv6815301 (2)
dbVar

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000146141	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Benign (May 29, 2002)	germline	clinical testing
SCV000488048	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Dec 22, 2015)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24728327, 12491487, 16030099, 18284688, 26635394 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV004228391	Department of Medical and Surgical Sciences, University of Bologna	no assertion criteria provided	Likely benign (Sep 1, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000146141

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Benign
(May 29, 2002)

germline

clinical testing

SCV000488048

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Dec 22, 2015)

unknown

clinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004228391

Department of Medical and Surgical Sciences, University of Bologna

no assertion criteria provided

Likely benign
(Sep 1, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	11	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	yes	9	not provided	not provided	not provided	not provided	clinical testing
African, African American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
African, Latin American, Caribbean, Bahamian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Asian, Trinidadian Western Indies	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Western European, Latin American, Caribbe	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Breast cancer genetics in African Americans.

Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C.

Cancer. 2003 Jan 1;97(1 Suppl):236-45. Review.

PubMed [citation]

PMID:: 12491487

See all PubMed Citations (5)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146141.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	3	not provided	not provided	clinical testing	not provided
4	African	9	not provided	not provided	clinical testing	not provided
5	African, African American	1	not provided	not provided	clinical testing	not provided
6	African, Latin American, Caribbean, Bahamian	1	not provided	not provided	clinical testing	not provided
7	Asian, Trinidadian Western Indies	1	not provided	not provided	clinical testing	not provided
8	Latin American, Caribbean	2	not provided	not provided	clinical testing	not provided
9	Western European, Latin American, Caribbe	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		7	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		9	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000488048.2

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

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228391.1

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

Description

BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

#	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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