NM_000135.4(FANCA):c.2853-2A>C AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Mar 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000673183.2

Allele description [Variation Report for NM_000135.4(FANCA):c.2853-2A>C]

NM_000135.4(FANCA):c.2853-2A>C

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.2853-2A>C
HGVS:
  • NC_000016.10:g.89758707T>G
  • NG_011706.1:g.62951A>C
  • NM_000135.4:c.2853-2A>CMANE SELECT
  • NM_001286167.3:c.2853-2A>C
  • LRG_495t1:c.2853-2A>C
  • LRG_495:g.62951A>C
  • NC_000016.9:g.89825115T>G
  • NM_000135.2:c.2853-2A>C
Links:
dbSNP: rs947311062
NCBI 1000 Genomes Browser:
rs947311062
Molecular consequence:
  • NM_000135.4:c.2853-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286167.3:c.2853-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798358Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 7, 2018)
unknownclinical testing

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

Citation Link,

SCV001425702Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD.

Hum Mutat. 2005 Feb;25(2):142-9.

PubMed [citation]
PMID:
15643609

Details of each submission

From Counsyl, SCV000798358.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Leiden Open Variation Database, SCV001425702.1

#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 6, 2021

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