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NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 5, 2019)
Last evaluated:
May 31, 2016
Accession:
VCV000420449.3
Variation ID:
420449
Description:
single nucleotide variant
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NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)

Allele ID
407750
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95135381 (GRCh38) GRCh38 UCSC
9: 97897663 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_497:g.187329A>T
LRG_497t1:c.808A>T
NC_000009.11:g.97897663T>A
... more HGVS
Protein change
R270*
Other names
-
Canonical SPDI
NC_000009.12:95135380:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA5137632
dbSNP: rs776054094
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 31, 2016 RCV000484266.1
Likely pathogenic 1 no assertion criteria provided Nov 11, 2016 RCV000984174.1
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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
440 1077

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 31, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000569290.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted FANCC c.808A>T at the cDNA level and p.Arg270Ter (R270X) at the protein level. The substitution creates a nonsense variant, which changes … (more)
Likely pathogenic
(Nov 11, 2016)
no assertion criteria provided
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: unknown
Counsyl
Accession: SCV001132189.1
Submitted: (Aug 05, 2019)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs776054094...

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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