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NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Sep 24, 2020
Accession:
VCV000419252.7
Variation ID:
419252
Description:
single nucleotide variant
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NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)

Allele ID
407740
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95117318 (GRCh38) GRCh38 UCSC
9: 97879600 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_497:g.205392C>T
LRG_497t1:c.1069C>T
NC_000009.12:g.95117318G>A
... more HGVS
Protein change
Q357*
Other names
-
Canonical SPDI
NC_000009.12:95117317:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA5137481
dbSNP: rs759900071
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Apr 12, 2019 RCV000483955.3
Pathogenic 1 criteria provided, single submitter Sep 24, 2020 RCV001035863.2
Likely pathogenic 1 no assertion criteria provided Jan 2, 2014 RCV000984263.1
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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
Pathogenic
(Apr 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000566937.5
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Pathogenic
(Sep 24, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV001199202.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gln357*) in the FANCC gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Jan 02, 2014)
no assertion criteria provided
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: unknown
Counsyl
Accession: SCV001132389.1
Submitted: (Aug 05, 2019)
Evidence details
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551748.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The FANCC p.Gln357X variant was identified in 1 of 56 proband chromosomes (frequency: 0.02) from individuals or families of Italian ethnicity with Fanconi anemia (Nicchia … (more)

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
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology. Nicchia E Molecular genetics & genomic medicine 2015 PMID: 26740942
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Ameziane N Human mutation 2008 PMID: 17924555

Text-mined citations for rs759900071...

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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