NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 1, 2023
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:: RCV000113253.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)]

NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)

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.3965A>C (p.Asn1322Thr)

HGVS:

NC_000013.11:g.32338320A>C
NG_012772.3:g.27841A>C
NM_000059.4:c.3965A>CMANE SELECT
NP_000050.2:p.Asn1322Thr
NP_000050.3:p.Asn1322Thr
LRG_293t1:c.3965A>C
LRG_293:g.27841A>C
LRG_293p1:p.Asn1322Thr
NC_000013.10:g.32912457A>C
NM_000059.3:c.3965A>C
U43746.1:n.4193A>C
p.N1322T

Protein change:

N1322T

Links:

dbSNP: rs80358646

NCBI 1000 Genomes Browser:

rs80358646

Molecular consequence:

NM_000059.4:c.3965A>C - 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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Retrocaval Ureter
A rare congenital abnormality resulting in the URETER passing dorsal to and being obstructed by the INFERIOR VENA CAVA.<br/>Year introduced: 2014

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000146347	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Dec 23, 2003)	germline	clinical testing
SCV004845247	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Dec 1, 2023)	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

SCV000146347

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Uncertain significance
(Dec 23, 2003)

germline

clinical testing

SCV004845247

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Dec 1, 2023)

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	unknown	5	not provided	not provided	108544	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Breast Cancer Information Core (BIC) (BRCA2), SCV000146347.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	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 All of Us Research Program, National Institutes of Health, SCV004845247.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	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		5	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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