NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: May 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000674566.2

Allele description [Variation Report for NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)]

NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)

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.1267C>T (p.Gln423Ter)
HGVS:
  • NC_000016.10:g.89791495G>A
  • NG_011706.1:g.30163C>T
  • NM_000135.4:c.1267C>TMANE SELECT
  • NM_001286167.3:c.1267C>T
  • NP_000126.2:p.Gln423Ter
  • NP_001273096.1:p.Gln423Ter
  • LRG_495t1:c.1267C>T
  • LRG_495:g.30163C>T
  • NC_000016.9:g.89857903G>A
  • NM_000135.2:c.1267C>T
Protein change:
Q423*
Links:
dbSNP: rs774026652
NCBI 1000 Genomes Browser:
rs774026652
Molecular consequence:
  • NM_000135.4:c.1267C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.1267C>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
SCV000799923Counsylcriteria provided, single submitter
Likely pathogenic
(May 14, 2018)
unknownclinical testing

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

Citation Link,

SCV001425654Leiden 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 providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J.

Blood. 2005 Mar 1;105(5):1946-9. Epub 2004 Nov 2. Erratum in: Blood. 2005 May 1;105(9):3404.

PubMed [citation]
PMID:
15522956

Details of each submission

From Counsyl, SCV000799923.1

#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, SCV001425654.1

#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: Sep 25, 2021

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