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NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Sep 21, 2018
Accession:
VCV000127531.2
Variation ID:
127531
Description:
single nucleotide variant
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NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)

Allele ID
132988
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95111495 (GRCh38) GRCh38 UCSC
9: 97873777 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.97873777G>A
NC_000009.12:g.95111495G>A
NM_000136.3:c.1297C>T NP_000127.2:p.Arg433Cys missense
... more HGVS
Protein change
R433C
Other names
p.R433C:CGT>TGT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA287184
dbSNP: rs369684405
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 21, 2018 RCV000115341.4
Uncertain significance 1 criteria provided, single submitter Aug 3, 2015 RCV000206060.1
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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
1 421
FANCC - - GRCh38
GRCh37
260 681

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 03, 2015)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV000259762.2
Submitted: (Jan 06, 2016)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 433 of the FANCC protein (p.Arg433Cys). The arginine residue is weakly conserved and there is a ... (more)
Uncertain significance
(Sep 21, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149250.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted FANCC c.1297C>T at the cDNA level, p.Arg433Cys (R433C) at the protein level, and results in the change of an Arginine to ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 14, 2020