NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 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:: RCV000119197.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)]

NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)

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.2598A>T (p.Glu866Asp)

HGVS:

NC_000013.11:g.32336953A>T
NG_012772.3:g.26474A>T
NM_000059.4:c.2598A>TMANE SELECT
NP_000050.2:p.Glu866Asp
NP_000050.3:p.Glu866Asp
LRG_293t1:c.2598A>T
LRG_293:g.26474A>T
LRG_293p1:p.Glu866Asp
NC_000013.10:g.32911090A>T
NM_000059.3:c.2598A>T
p.E866D

Protein change:

E866D

Links:

dbSNP: rs587780549

NCBI 1000 Genomes Browser:

rs587780549

Molecular consequence:

NM_000059.4:c.2598A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000153938	Invitae	no assertion criteria provided	Uncertain significance (Jun 11, 2014)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000153938

Invitae

no assertion criteria provided

Uncertain significance
(Jun 11, 2014)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Invitae, SCV000153938.2

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

Description

This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by functional studies. In addition, the p.Glu866Asp amino acid change is poorly conserved and has been observed in the rat, chicken, and zebrafish BRCA2 homologous proteins.

#	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: Jun 2, 2024

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