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NM_000135.4(FANCA):c.3828+2dup 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:
RCV001256525.1

Allele description [Variation Report for NM_000135.4(FANCA):c.3828+2dup]

NM_000135.4(FANCA):c.3828+2dup

Genes:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
LOC132090445:Neanderthal introgressed variant-containing enhancer experimental_46704 [Gene]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.3828+2dup
HGVS:
  • NC_000016.10:g.89740802dup
  • NG_011706.1:g.80856dup
  • NG_231003.1:g.265dup
  • NM_000135.4:c.3828+2dupMANE SELECT
  • NM_001113525.2:c.*2556dupMANE SELECT
  • NM_001286167.3:c.3828+2dup
  • NM_152287.4:c.*2556dup
  • LRG_495t1:c.3828+2dup
  • LRG_495:g.80856dup
  • NC_000016.9:g.89807210dup
  • NM_000135.2:c.3828+2dup
  • NM_000135.2:c.3828+2dupT
  • NR_110122.2:n.4556dup
  • NR_110126.2:n.4439dup
  • NR_110128.2:n.4379dup
  • NR_110129.2:n.4473dup
Links:
dbSNP: rs2062114186
NCBI 1000 Genomes Browser:
rs2062114186
Molecular consequence:
  • NM_001113525.2:c.*2556dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*2556dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_110122.2:n.4556dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.4439dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.4379dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.4473dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000135.4:c.3828+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001286167.3:c.3828+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001426000Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Feb 28, 2020) 		germlinecuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From Leiden Open Variation Database, SCV001426000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

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: Sep 1, 2024