NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 3, 2023
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:: RCV003317405.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser)]

NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser)

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.2474A>G (p.Asn825Ser)

HGVS:

NC_000013.11:g.32336829A>G
NG_012772.3:g.26350A>G
NM_000059.4:c.2474A>GMANE SELECT
NP_000050.2:p.Asn825Ser
NP_000050.3:p.Asn825Ser
LRG_293t1:c.2474A>G
LRG_293:g.26350A>G
LRG_293p1:p.Asn825Ser
NC_000013.10:g.32910966A>G
NM_000059.3:c.2474A>G

Protein change:

N825S

Links:

dbSNP: rs1593897016

NCBI 1000 Genomes Browser:

rs1593897016

Molecular consequence:

NM_000059.4:c.2474A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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OR14A16 olfactory receptor family 14 subfamily A member 16 [Homo sapiens]
OR14A16 olfactory receptor family 14 subfamily A member 16 [Homo sapiens]
Gene ID:284532

Gene
homo sapiens[Organism] AND OR14A16 AND (alive[prop]) (1)
Gene
homo sapiens[Organism] AND OR2T11 AND (alive[prop]) (2)
Gene
LYPD8 LY6/PLAUR domain containing 8 [Homo sapiens]
LYPD8 LY6/PLAUR domain containing 8 [Homo sapiens]
Gene ID:646627

Gene
homo sapiens[Organism] AND LYPD8 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004021143	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jun 3, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004021143

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jun 3, 2023)

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004021143.1

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

Last Updated: Sep 29, 2024

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