NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 7, 2018
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:: RCV000755859.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=)]

NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=)

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.7242A>T (p.Ser2414=)

HGVS:

NC_000013.11:g.32355095A>T
NG_012772.3:g.44616A>T
NM_000059.4:c.7242A>TMANE SELECT
NP_000050.2:p.Ser2414=
NP_000050.3:p.Ser2414=
LRG_293t1:c.7242A>T
LRG_293:g.44616A>T
LRG_293p1:p.Ser2414=
NC_000013.10:g.32929232A>T
NM_000059.3:c.7242A>T
p.Ser2414Ser

Links:

dbSNP: rs1799955

NCBI 1000 Genomes Browser:

rs1799955

Molecular consequence:

NM_000059.4:c.7242A>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000883479	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (May 5, 2017)	germline	clinical testing	Citation Link,
SCV001813050	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 7, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883479

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Likely benign
(May 5, 2017)

germline

clinical testing

Citation Link,

SCV001813050

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 7, 2018)

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883479.1

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

Description

The BRCA2 c.7242A>T; p.Ser2414Ser variant has not been reported in the literature or gene-specific variant databases. It is observed in the general population databases (rs1799955) at a frequency of 0.001 percent (3/276966 alleles; Genome Aggregation Database). This is a synonymous change, the nucleotide is not well conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, HumanSplicingFinder) do not predict this variant to significantly impact splicing. Taken together, this variant is considered likely benign.

#	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 GeneDx, SCV001813050.1

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

Description

This variant is associated with the following publications: (PMID: 25085752, 23315985)

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine