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NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 1, 2020
Accession:
VCV000555008.8
Variation ID:
555008
Description:
single nucleotide variant
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NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)

Allele ID
548634
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89749806 (GRCh38) GRCh38 UCSC
16: 89816214 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89749806G>A
NC_000016.9:g.89816214G>A
NG_011706.1:g.71852C>T
... more HGVS
Protein change
R1055W
Other names
-
Canonical SPDI
NC_000016.10:89749805:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs753063086
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000670742.4
Pathogenic 1 criteria provided, single submitter Nov 1, 2020 RCV000809264.3
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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
2162 2653

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 10, 2017)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Counsyl
Accession: SCV000795636.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (8)
Likely pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group A
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894101.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Nov 01, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV000949410.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces arginine with tryptophan at codon 1055 of the FANCA protein (p.Arg1055Trp). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 28, 2020)
no assertion criteria provided
Method: curation
Fanconi anemia, complementation group A
Allele origin: germline
Leiden Open Variation Database
Accession: SCV001425978.1
Submitted: (Mar 04, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Fanconi anemia, group A
Allele origin: germline
Natera, Inc.
Accession: SCV001462888.1
Submitted: (Dec 28, 2020)
Evidence details

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 germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents. Wilkes DC Cold Spring Harbor molecular case studies 2017 PMID: 28864460
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. De Rocco D Haematologica 2014 PMID: 24584348
Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. Qian L PloS one 2013 PMID: 24349332
Fanconi anemia signaling network regulates the spindle assembly checkpoint. Nalepa G The Journal of clinical investigation 2013 PMID: 23934222
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. Moghrabi NN Genetics in medicine : official journal of the American College of Medical Genetics 2009 PMID: 19367192
Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Yagasaki H Human mutation 2004 PMID: 15523645
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. Adachi D Human molecular genetics 2002 PMID: 12444097
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Wijker M European journal of human genetics : EJHG 1999 PMID: 10094191
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. Nakamura A Journal of human genetics 1999 PMID: 9929978

Text-mined citations for rs753063086...

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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 Nov 27, 2021