NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Benign (7 submissions)
Last evaluated:: Jun 18, 2019
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000077324.25

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:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109121	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Feb 19, 2009)	germline	clinical testing
SCV000146864	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000220584	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Aug 9, 2014)	unknown	literature only	PubMed (8) [See all records that cite these PMIDs] 14973102, 17657584, 24489791, 22126563, 18627636, 20215541, 24728327, 21218378 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000383612	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17972177, 18627636 Citation Link,
SCV001138959	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001161532	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Benign (Jun 18, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004846773	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Feb 5, 2024)	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	4	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	26	not provided	not provided	108544	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only
not provided	germline	not provided	8	not provided	not provided	8	not provided	clinical testing
Asian	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Asian, Filipino	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Chinese	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Malay	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
Philipeno	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations in women from Shanghai China.

Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC, Thomas DB, Ostrander EA.

Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):181-9.

PubMed [citation]

PMID:: 14973102

Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family.

Kwong A, Wong LP, Chan KY, Ma ES, Khoo US, Ford JM.

Fam Cancer. 2008;7(2):125-33. Epub 2007 Jul 27.

PubMed [citation]

PMID:: 17657584

See all PubMed Citations (11)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109121.4

#	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	not provided	8	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:R2784W	1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146864.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided
2	Asian	4	not provided	not provided	clinical testing	not provided
3	Asian, Filipino	1	not provided	not provided	clinical testing	not provided
4	Chinese	1	not provided	not provided	clinical testing	not provided
5	Malay	3	not provided	not provided	clinical testing	not provided
6	Philipeno	1	not provided	not provided	clinical testing	not provided
7	Western European	1	not provided	not provided	clinical testing	not provided
8	Western European, Native American	1	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	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000220584.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (8)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV000383612.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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 Mendelics, SCV001138959.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161532.2

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000603

#	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 All of Us Research Program, National Institutes of Health, SCV004846773.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	26	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	108544	not provided	not provided		26	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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