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NC_000016.10:g.88342444_88343618del 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:
RCV001256473.9

Allele description [Variation Report for NC_000016.10:g.88342444_88343618del]

NC_000016.10:g.88342444_88343618del

Gene:
ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NC_000016.10:g.88342444_88343618del
HGVS:
  • NC_000016.10:g.88342444_88343618del
  • LRG_495t1:c.1471-191_1626+740del
  • NC_000016.9:g.88376050_88377224del
  • NM_000135.2:c.1471-191_1626+740del

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
SCV001425931Leiden 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

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.

Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP 3rd, Harris RE, MacMillan ML, Wagner JE, Smogorzewska A, Auerbach AD, Ostrander EA, Chandrasekharappa SC.

Hum Mutat. 2014 Nov;35(11):1342-53. doi: 10.1002/humu.22680.

PubMed [citation]
PMID:
25168418
PMCID:
PMC4407816

Details of each submission

From Leiden Open Variation Database, SCV001425931.1

#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 18, 2024