NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000496396.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala)]

NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala)

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.2963A>C (p.Asp988Ala)

HGVS:

NC_000013.11:g.32337318A>C
NG_012772.3:g.26839A>C
NM_000059.4:c.2963A>CMANE SELECT
NP_000050.2:p.Asp988Ala
NP_000050.3:p.Asp988Ala
LRG_293t1:c.2963A>C
LRG_293:g.26839A>C
LRG_293p1:p.Asp988Ala
NC_000013.10:g.32911455A>C
NM_000059.3:c.2963A>C

Protein change:

D988A

Links:

dbSNP: rs876659509

NCBI 1000 Genomes Browser:

rs876659509

Molecular consequence:

NM_000059.4:c.2963A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587650	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Uncertain significance (Jan 31, 2014)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587650

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Uncertain significance
(Jan 31, 2014)

germline

research

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	research

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587650.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Nov 10, 2024

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