NM_000059.4(BRCA2):c.631+1G>A AND Fanconi anemia complementation group D1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009942.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.631+1G>A]

NM_000059.4(BRCA2):c.631+1G>A

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.631+1G>A

Other names:

IVS7+1G>A

HGVS:

NC_000013.11:g.32326614G>A
NG_012772.3:g.16135G>A
NM_000059.4:c.631+1G>AMANE SELECT
NM_001406719.1:c.631+1G>A
NM_001406720.1:c.631+1G>A
NM_001406721.1:c.631+1G>A
NM_001406722.1:c.262+1G>A
LRG_293t1:c.631+1G>A
LRG_293:g.16135G>A
NC_000013.10:g.32900751G>A
NM_000059.3:c.631+1G>A
U43746.1:n.859+1G>A

Nucleotide change:

IVS7DS, G-A, +1

Links:

Breast Cancer Information Core (BIC) (BRCA2): 859+1&base_change=G to A; OMIM: 600185.0033; dbSNP: rs81002897

NCBI 1000 Genomes Browser:

rs81002897

Molecular consequence:

NM_000059.4:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406722.1:c.262+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Fanconi anemia complementation group D1
Identifiers:: MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030163	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15070707, 16825431

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030163

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2007)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD.

Blood. 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8.

PubMed [citation]

PMID:: 15070707

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Alter BP, Rosenberg PS, Brody LC.

J Med Genet. 2007 Jan;44(1):1-9. Epub 2006 Jul 6.

PubMed [citation]

PMID:: 16825431
PMCID:: PMC2597904

Details of each submission

From OMIM, SCV000030163.2

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

Description

In 2 sisters with Fanconi anemia complementation group D1 (FANCD1; 605724), Wagner et al. (2004) found a splice site mutation in intron 7 of the BRCA2 gene, IVS7+1G-A, in compound heterozygosity with a premature termination mutation. Both sisters developed acute myeloblastic leukemia, at 3 and 1.8 years of age, respectively. Alter et al. (2007) included these patients in an analysis of the clinical and molecular features associated with the BRCA2 mutations identified in FANCD1 patients.

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

Last Updated: Nov 3, 2024

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