NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Aug 19, 2022
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:: RCV000759610.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=)]

NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=)

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.4062G>A (p.Thr1354=)

HGVS:

NC_000013.11:g.32338417G>A
NG_012772.3:g.27938G>A
NM_000059.4:c.4062G>AMANE SELECT
NP_000050.2:p.Thr1354=
NP_000050.3:p.Thr1354=
LRG_293t1:c.4062G>A
LRG_293:g.27938G>A
LRG_293p1:p.Thr1354=
NC_000013.10:g.32912554G>A
NM_000059.3:c.4062G>A
p.T1354T

Links:

dbSNP: rs768735660

NCBI 1000 Genomes Browser:

rs768735660

Molecular consequence:

NM_000059.4:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000889038	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Aug 19, 2022)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 32467295, 20858050, 26467025
SCV001900822	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000889038

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Aug 19, 2022)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001900822

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 3, 2015)

germline

clinical testing

Citation Link

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.

Dong H, Chandratre K, Qin Y, Zhang J, Tian X, Rong C, Wang N, Guo M, Zhao G, Wang SM.

J Med Genet. 2021 Aug;58(8):565-569. doi: 10.1136/jmedgenet-2020-106970. Epub 2020 May 28.

PubMed [citation]

PMID:: 32467295

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, Cohen-Haguenauer O, Giurgea I, Fajac A, Noguès C, Demange L, Hardouin A, Lidereau R, Soubrier F.

Genet Test Mol Biomarkers. 2010 Oct;14(5):677-90. doi: 10.1089/gtmb.2009.0183. Epub 2010 Sep 21.

PubMed [citation]

PMID:: 20858050

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889038.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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 GeneDx, SCV001900822.1

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

Last Updated: Oct 13, 2024

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