NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) AND Fanconi anemia complementation group D1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 2002
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:: RCV000009924.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)]

NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)

HGVS:

NC_000013.11:g.32339964_32339965delinsAG
NG_012772.3:g.29485_29486delinsAG
NM_000059.4:c.5609_5610delinsAGMANE SELECT
NP_000050.3:p.Phe1870Ter
LRG_293:g.29485_29486delinsAG
NC_000013.10:g.32914101_32914102delinsAG
NM_000059.3:c.5609_5610delTCinsAG
NM_000059.4:c.5609_5610delinsAG
U43746.1:n.5837_5838delTCinsAG

Links:

OMIM: 600185.0021; dbSNP: rs276174859

NCBI 1000 Genomes Browser:

rs276174859

Molecular consequence:

NM_000059.4:c.5609_5610delinsAG - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000030145	OMIM	no assertion criteria provided	Pathogenic (Jul 26, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030145

OMIM

no assertion criteria provided

Pathogenic
(Jul 26, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Biallelic inactivation of BRCA2 in Fanconi anemia.

Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD.

Science. 2002 Jul 26;297(5581):606-9. Epub 2002 Jun 13.

PubMed [citation]

PMID:: 12065746

Details of each submission

From OMIM, SCV000030145.4

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

Description

In the EUFA579 cell line from a patient with Fanconi anemia (FANCD1; 605724), Howlett et al. (2002) identified compound heterozygosity for 2 BRCA2 mutations: 7235G-A in exon 13 (600185.0020) and 5837TC to AG in exon 11.

#	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 10, 2024

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