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NC_000016.10:g.89811072del AND Fanconi anemia complementation group A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2020
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:
RCV001256329.10

Allele description [Variation Report for NC_000016.10:g.89811072del]

NC_000016.10:g.89811072del

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NC_000016.10:g.89811072del
HGVS:
  • NC_000016.10:g.89811071del
  • NC_000016.10:g.89811072del
  • NG_011706.1:g.10587del
  • LRG_495t1:c.284del
  • LRG_495:g.10587del
  • NC_000016.9:g.89877479del
  • NC_000016.9:g.89877480del
  • NM_000135.2:c.284del
Links:
dbSNP: rs2040861554
NCBI 1000 Genomes Browser:
rs2040861554

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425755Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Feb 28, 2020) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, et al.

Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27.

PubMed [citation]
PMID:
21273304
PMCID:
PMC3083295

Details of each submission

From Leiden Open Variation Database, SCV001425755.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024