NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV000044408.28

Allele description [Variation Report for NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)]

NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)

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.440A>G (p.Gln147Arg)

Other names:

p.Q147R:CAA>CGA; NP_000050.3:p.Gln147Arg

HGVS:

NC_000013.11:g.32326115A>G
NG_012772.3:g.15636A>G
NM_000059.4:c.440A>GMANE SELECT
NP_000050.2:p.Gln147Arg
NP_000050.3:p.Gln147Arg
LRG_293t1:c.440A>G
LRG_293:g.15636A>G
LRG_293p1:p.Gln147Arg
NC_000013.10:g.32900252A>G
NM_000059.3:c.440A>G
U43746.1:n.668A>G
p.Q147R

Nucleotide change:

668A>G

Protein change:

Q147R

Links:

dbSNP: rs80358674

NCBI 1000 Genomes Browser:

rs80358674

Molecular consequence:

NM_000059.4:c.440A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

Clear Turn Off Turn On

Pseudomonas asplenii strain IPG72, whole genome shotgun sequencing project
Pseudomonas asplenii strain IPG72, whole genome shotgun sequencing project
gi|2444031157|gb|JAQMZR000000000.1| R010000000

Nucleotide
Escherichia coli strain FPL10, whole genome shotgun sequencing project
Escherichia coli strain FPL10, whole genome shotgun sequencing project
gi|2444031028|gb|JAQMZB000000000.1| B010000000

Nucleotide
Serratia liquefaciens strain IPG32, whole genome shotgun sequencing project
Serratia liquefaciens strain IPG32, whole genome shotgun sequencing project
gi|2444031227|gb|JAQNAG000000000.1| G010000000

Nucleotide
Enterobacter hormaechei strain RWL3, whole genome shotgun sequencing project
Enterobacter hormaechei strain RWL3, whole genome shotgun sequencing project
gi|2463696082|gb|JARJBK000000000.1| K010000000

Nucleotide
Brucella intermedia strain IPG24, whole genome shotgun sequencing project
Brucella intermedia strain IPG24, whole genome shotgun sequencing project
gi|2444031213|gb|JAQNAM000000000.1| M010000000

Nucleotide

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
SCV000072421	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002504837	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 19, 2022)	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

SCV000072421

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV002504837

National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 19, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000072421.16

#	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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002504837.1

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine