NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: May 28, 2019
Review status:: criteria provided, conflicting classifications

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:: RCV000083100.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)]

NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)

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.3814A>G (p.Met1272Val)

Other names:

p.M1272V:ATG>GTG

HGVS:

NC_000013.11:g.32338169A>G
NG_012772.3:g.27690A>G
NM_000059.4:c.3814A>GMANE SELECT
NP_000050.2:p.Met1272Val
NP_000050.3:p.Met1272Val
LRG_293t1:c.3814A>G
LRG_293:g.27690A>G
LRG_293p1:p.Met1272Val
NC_000013.10:g.32912306A>G
NM_000059.3:c.3814A>G
U43746.1:n.4042A>G
p.M1272V

Nucleotide change:

4042A>G

Protein change:

M1272V

Links:

dbSNP: rs80358624

NCBI 1000 Genomes Browser:

rs80358624

Molecular consequence:

NM_000059.4:c.3814A>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
SCV000115174	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (May 1, 2012)	germline	clinical testing
SCV000146302	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000489068	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Aug 12, 2016)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16949048, 14973102, 24817641, 21520273 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001139073	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Asian	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, Italian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

Kim BY, Lee DG, Lee KR, Han SH, Surendran S, Han CW, Chung N.

Biochem Biophys Res Commun. 2006 Oct 20;349(2):604-10. Epub 2006 Aug 24.

PubMed [citation]

PMID:: 16949048

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

See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115174.4

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

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:7697T>C (I2490T)	1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146302.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	1	not provided	not provided	clinical testing	not provided
2	Western European	1	not provided	not provided	clinical testing	not provided
3	Western European, Italian	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		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000489068.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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 Mendelics, SCV001139073.1

#	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

Last Updated: Dec 22, 2024

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