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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 15, 2021)
Last evaluated:
Sep 15, 2021
Accession:
VCV000558318.4
Variation ID:
558318
Description:
single nucleotide variant
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NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)

Allele ID
547973
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89791495 (GRCh38) GRCh38 UCSC
16: 89857903 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89791495G>A
NC_000016.9:g.89857903G>A
NG_011706.1:g.30163C>T
... more HGVS
Protein change
Q423*
Other names
-
Canonical SPDI
NC_000016.10:89791494:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs774026652
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter May 14, 2018 RCV000674566.2
Pathogenic 1 criteria provided, single submitter Sep 15, 2021 RCV001683628.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FANCA - - GRCh38
GRCh37
2154 2635

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 14, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Counsyl
Accession: SCV000799923.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 15, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001905621.1
Submitted: (Sep 15, 2021)
Evidence details
Pathogenic
(Feb 28, 2020)
no assertion criteria provided
Method: curation
Fanconi anemia, complementation group A
Allele origin: germline
Leiden Open Variation Database
Accession: SCV001425654.1
Submitted: (Mar 04, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Callén E Blood 2005 PMID: 15522956

Text-mined citations for rs774026652...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 25, 2021