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NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 25, 2021)
Last evaluated:
May 17, 2021
Accession:
VCV000218427.9
Variation ID:
218427
Description:
single nucleotide variant
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NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)

Allele ID
215407
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95111630 (GRCh38) GRCh38 UCSC
9: 97873912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_497:g.211080G>T
LRG_497t1:c.1162G>T
NC_000009.11:g.97873912C>A
... more HGVS
Protein change
G388*
Other names
-
Canonical SPDI
NC_000009.12:95111629:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA248867
dbSNP: rs371897078
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 17, 2021 RCV000202668.2
Likely pathogenic 2 criteria provided, single submitter Oct 4, 2018 RCV000409441.2
Pathogenic 1 criteria provided, single submitter Aug 23, 2020 RCV000526773.4
Pathogenic 1 criteria provided, single submitter Feb 14, 2019 RCV001010060.1
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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
6 641
FANCC - - GRCh38
GRCh37
440 1078

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 15, 2015)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257631.2
Submitted: (Aug 10, 2015)
Evidence details
Likely pathogenic
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919323.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: FANCC c.1162G>T (p.Gly388X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Feb 14, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001170204.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.G388* pathogenic mutation (also known as c.1162G>T), located in coding exon 12 of the FANCC gene, results from a G to T substitution at … (more)
Pathogenic
(Aug 23, 2020)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia
Allele origin: germline
Invitae
Accession: SCV000626233.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Gly388*) in the FANCC gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(May 17, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779409.1
Submitted: (Sep 25, 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)
Likely pathogenic
(Nov 25, 2015)
no assertion criteria provided
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: unknown
Counsyl
Accession: SCV000485348.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (1)

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
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. Hu C JAMA 2018 PMID: 29922827
Patterns and functional implications of rare germline variants across 12 cancer types. Lu C Nature communications 2015 PMID: 26689913
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. Cancer Genome Atlas Research Network. The New England journal of medicine 2013 PMID: 23634996
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Ameziane N Human mutation 2008 PMID: 17924555

Text-mined citations for rs371897078...

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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