NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Feb 9, 2023
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:: RCV000130784.22

Allele description [Variation Report for NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)]

NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)

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.8356G>A (p.Ala2786Thr)

Other names:

p.Ala2786Thr

HGVS:

NC_000013.11:g.32370426G>A
NG_012772.3:g.59947G>A
NM_000059.4:c.8356G>AMANE SELECT
NP_000050.2:p.Ala2786Thr
NP_000050.3:p.Ala2786Thr
LRG_293t1:c.8356G>A
LRG_293:g.59947G>A
LRG_293p1:p.Ala2786Thr
NC_000013.10:g.32944563G>A
NM_000059.3:c.8356G>A
U43746.1:n.8584G>A
p.A2786T

Nucleotide change:

8584G>A

Protein change:

A2786T

Links:

dbSNP: rs80359077

NCBI 1000 Genomes Browser:

rs80359077

Molecular consequence:

NM_000059.4:c.8356G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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SPBc2 prophage-derived glycosyltransferase SunS [Fusobacterium varium]
SPBc2 prophage-derived glycosyltransferase SunS [Fusobacterium varium]
gi|1540076888|emb|VEH40948.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000185677	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 9, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14973102, 26221963, 27376475, 28222693, 29394989, 29684080 Citation Link,
SCV000683960	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002531938	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely benign (Oct 30, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000185677

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 9, 2023)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000683960

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jun 10, 2021)

germline

clinical testing

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

SCV002531938

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely benign
(Oct 30, 2020)

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

BRCA1 and BRCA2 mutations in women from Shanghai China.

Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC, Thomas DB, Ostrander EA.

Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):181-9.

PubMed [citation]

PMID:: 14973102

Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

Wong ES, Shekar S, Chan CH, Hong LZ, Poon SY, Silla T, Lin C, Kumar V, Davila S, Voorhoeve M, Thike AA, Ho GH, Yap YS, Tan PH, Tan MH, Ang P, Lee AS.

PLoS One. 2015;10(7):e0134408. doi: 10.1371/journal.pone.0134408.

PubMed [citation]

PMID:: 26221963
PMCID:: PMC4519264

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000185677.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000683960.5

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

From Sema4, Sema4, SCV002531938.1

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

#	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: Sep 8, 2024

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