NM_000135.4(FANCA):c.2853-15_2856del AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Oct 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000664679.2

Allele description [Variation Report for NM_000135.4(FANCA):c.2853-15_2856del]

NM_000135.4(FANCA):c.2853-15_2856del

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.2853-15_2856del
HGVS:
  • NC_000016.10:g.89758706_89758724del
  • NG_011706.1:g.62938_62956del
  • NM_000135.4:c.2853-15_2856delMANE SELECT
  • NM_001286167.3:c.2853-15_2856del
  • LRG_495t1:c.2853-15_2856del
  • LRG_495:g.62938_62956del
  • NC_000016.9:g.89825110_89825128del
  • NC_000016.9:g.89825114_89825132del
  • NM_000135.2:c.2853-15_2856del
  • NM_000135.2:c.2853-15_2856del19
Links:
dbSNP: rs1285346388
NCBI 1000 Genomes Browser:
rs1285346388
Molecular consequence:
  • NM_000135.4:c.2853-15_2856del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286167.3:c.2853-15_2856del - 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
SCV000788680Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 5, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001425701Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

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

Summary from all submissions

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

Citations

PubMed

Sequence variation in the Fanconi anemia gene FAA.

Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD.

Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13051-6.

PubMed [citation]
PMID:
9371798
PMCID:
PMC24261

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H.

Hum Mutat. 2008 Jan;29(1):159-66.

PubMed [citation]
PMID:
17924555

Details of each submission

From Counsyl, SCV000788680.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Leiden Open Variation Database, SCV001425701.1

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

Description

Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter.

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

Last Updated: Nov 27, 2021

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