NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Nov 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000671105.2

Allele description [Variation Report for NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)]

NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)

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.3592C>T (p.Gln1198Ter)
HGVS:
  • NC_000016.10:g.89744993G>A
  • NG_011706.1:g.76665C>T
  • NM_000135.4:c.3592C>TMANE SELECT
  • NM_001286167.3:c.3592C>T
  • NP_000126.2:p.Gln1198Ter
  • NP_001273096.1:p.Gln1198Ter
  • LRG_495t1:c.3592C>T
  • LRG_495:g.76665C>T
  • NC_000016.9:g.89811401G>A
  • NM_000135.2:c.3592C>T
Protein change:
Q1198*
Links:
dbSNP: rs1381684916
NCBI 1000 Genomes Browser:
rs1381684916
Molecular consequence:
  • NM_000135.4:c.3592C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.3592C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000796050Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 29, 2017)
unknownclinical testing

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

Citation Link,

SCV001425850Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

Summary from all submissions

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

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, SCV000796050.1

#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, SCV001425850.1

#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: Nov 27, 2021

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