NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Jan 3, 2024
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:: RCV000031845.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)]

NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)

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.9728C>T (p.Pro3243Leu)

Other names:

p.P3243L:CCT>CTT

HGVS:

NC_000013.11:g.32398241C>T
NG_012772.3:g.87762C>T
NM_000059.4:c.9728C>TMANE SELECT
NP_000050.2:p.Pro3243Leu
NP_000050.3:p.Pro3243Leu
LRG_293t1:c.9728C>T
LRG_293:g.87762C>T
LRG_293p1:p.Pro3243Leu
NC_000013.10:g.32972378C>T
NM_000059.3:c.9728C>T
U43746.1:n.9956C>T
p.P3243L

Nucleotide change:

9956C>T

Protein change:

P3243L

Links:

dbSNP: rs80359241

NCBI 1000 Genomes Browser:

rs80359241

Molecular consequence:

NM_000059.4:c.9728C>T - 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

Recent activity

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Mus musculus resistance to inhibitors of cholinesterase 8 homolog (C. elegans), ...
Mus musculus resistance to inhibitors of cholinesterase 8 homolog (C. elegans), mRNA (cDNA clone MGC:27540 IMAGE:4460521), complete cds
gi|18606136|gb|BC022917.1|

Nucleotide
PREDICTED: LOW QUALITY PROTEIN: G2/mitotic-specific cyclin S13-7-like [Cucumis m...
PREDICTED: LOW QUALITY PROTEIN: G2/mitotic-specific cyclin S13-7-like [Cucumis melo]
gi|659111424|ref|XP_008455738.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000054453	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Sep 1, 2010)	germline	clinical testing
SCV000147704	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000487774	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Nov 21, 2015)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV004846224	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Jan 3, 2024)	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	not provided	3	not provided	not provided	3	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	108544	not provided	clinical testing
Asian, Philipino	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

Carney ME, Basiliere MS, Mates K, Sing CK.

Hawaii Med J. 2010 Nov;69(11):268-71.

PubMed [citation]

PMID:: 21218378
PMCID:: PMC3071188

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 Sharing Clinical Reports Project (SCRP), SCV000054453.5

#	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	3	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147704.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian, Philipino	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

From Counsyl, SCV000487774.2

#	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	unknown	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, SCV004846224.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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