NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs) AND Fanconi anemia complementation group A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1996
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:: RCV000003611.3

Allele description [Variation Report for NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)]

NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)

Gene:

FANCA:FA complementation group A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q24.3

Preferred name:

NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)

HGVS:

LRG_495t1:c.894_1006del
NM_000135.2:c.894_1006del

Note:

Deletion of 1 exon from FANCA cDNA (exon 11 of NM_000135.2). Genomic sequencing not given in PubMed 8896564.

Links:

OMIM: 607139.0004

Condition(s)

Name:: Fanconi anemia complementation group A
Synonyms:: Fanconi anemia, group A
Identifiers:: MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023769	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1996)	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

SCV000023769

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1996)

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

Positional cloning of the Fanconi anaemia group A gene.

Fanconi anaemia/Breast cancer consortium..

Nat Genet. 1996 Nov;14(3):324-8.

PubMed [citation]

PMID:: 8896564

Details of each submission

From OMIM, SCV000023769.2

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

Description

A patient of northern European origin with Fanconi anemia (FANCA; 227650) was found by the Fanconi Anaemia/Breast Cancer Consortium (1996) to be compound heterozygous for 2 mutations in the FANCA gene: a 113-bp deletion spanning nucleotides 938 to 1050, and a 156-bp deletion (607139.0003). The 113-bp deletion removes a single exon from the coding sequence and creates a premature stop codon 2 residues downstream.

#	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 4, 2023

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