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NM_000136.3(FANCC):c.1533+1G>C

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 19, 2021)
Last evaluated:
Feb 13, 2020
Accession:
VCV000370968.3
Variation ID:
370968
Description:
single nucleotide variant
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NM_000136.3(FANCC):c.1533+1G>C

Allele ID
357822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95107065 (GRCh38) GRCh38 UCSC
9: 97869347 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_497:g.215645G>C
NC_000009.11:g.97869347C>G
LRG_497t1:c.1533+1G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:95107064:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA5137319
dbSNP: rs753885687
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 24, 2016 RCV000409707.2
Pathogenic 1 criteria provided, single submitter Feb 13, 2020 RCV001380007.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AOPEP - - GRCh38
GRCh37
6 640
FANCC - - GRCh38
GRCh37
437 1074

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 24, 2016)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: unknown
Counsyl
Accession: SCV000486410.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Feb 13, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV001577930.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change affects a donor splice site in the last intron (intron 14) of the FANCC gene. While this is not anticipated to result … (more)
Likely pathogenic
(Aug 31, 2021)
no assertion criteria provided
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002024579.1
Submitted: (Nov 19, 2021)
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
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
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. Lo ten Foe JR Human genetics 1996 PMID: 8882868
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. Murer-Orlando M Lancet (London, England) 1993 PMID: 8103176

Text-mined citations for rs753885687...

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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 28, 2021