NM_000135.4(FANCA):c.3241_3626+1del AND Fanconi anemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2017
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:: RCV000779594.9

Allele description [Variation Report for NM_000135.4(FANCA):c.3241_3626+1del]

NM_000135.4(FANCA):c.3241_3626+1del

Genes:

LOC132090450:Neanderthal introgressed variant-containing enhancer experimental_46718 [Gene]
FANCA:FA complementation group A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000135.4(FANCA):c.3241_3626+1del

HGVS:

NC_000016.10:g.89744959_89748767del
NG_011706.1:g.72891_76699del
NG_011706.1:g.72892_76700del
NM_000135.4:c.3241_3626+1delMANE SELECT
NM_001286167.3:c.3241_3626+1del
LRG_495:g.72892_76700del
NC_000016.9:g.89811367_89815175del
NG_011706.1:g.72891_76699del

Molecular consequence:

NM_000135.4:c.3241_3626+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001286167.3:c.3241_3626+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000135.4:c.3241_3626+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001286167.3:c.3241_3626+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Fanconi anemia (FA)
Synonyms:: Fanconi pancytopenia; Fanconi's anemia
Identifiers:: MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000574712	Molecular Genetics and Enzymology, National Research Centre	no assertion criteria provided	Pathogenic (Feb 1, 2017)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000574712

Molecular Genetics and Enzymology, National Research Centre

no assertion criteria provided

Pathogenic
(Feb 1, 2017)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Egyptian	germline	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Molecular Genetics and Enzymology, National Research Centre, SCV000574712.1

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

Description

this mutaton is asociated with severe Fanconi anemia patient

#	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

Last Updated: Nov 24, 2024

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