NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) AND Hereditary breast and ovarian cancer syndrome

replaced

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 28, 2017
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:: RCV000167773.5

Allele description

NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His)

Other names:

p.R2842H:CGC>CAC

HGVS:

NC_000013.11:g.32370993G>A
NG_012772.3:g.60514G>A
NM_000059.3:c.8525G>A
NP_000050.2:p.Arg2842His
LRG_293t1:c.8525G>A
LRG_293:g.60514G>A
LRG_293p1:p.Arg2842His
NC_000013.10:g.32945130G>A
U43746.1:n.8753G>A
p.R2842H

Nucleotide change:

8753G>A

Protein change:

R2842H

Links:

dbSNP: rs80359105

NCBI 1000 Genomes Browser:

rs80359105

Molecular consequence:

NM_000059.3:c.8525G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer
Identifiers:: MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000073558	Invitae	criteria provided, single submitter (Nykamp K et al. (Genet Med 2017))	Likely benign (Nov 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000073558

Invitae

criteria provided, single submitter

(Nykamp K et al. (Genet Med 2017))

Likely benign
(Nov 28, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000073558.7

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

#	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: Dec 1, 2019

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