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NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Oct 10, 2016
Accession:
VCV000127530.2
Variation ID:
127530
Description:
single nucleotide variant
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NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe)

Allele ID
132987
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95117378 (GRCh38) GRCh38 UCSC
9: 97879660 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.97879660G>A
NC_000009.12:g.95117378G>A
NM_001243743.1:c.1009C>T NP_001230672.1:p.Leu337Phe missense
... more HGVS
Protein change
L337F
Other names
p.L337F:CTC>TTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA287181
dbSNP: rs587779899
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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 Oct 10, 2016 RCV000115340.4
Uncertain significance 1 criteria provided, single submitter May 15, 2015 RCV000197177.1
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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
(May 15, 2015)
criteria provided, single submitter
Method: clinical testing
Fanconi's anemia
Allele origin: germline
Invitae
Accession: SCV000254249.2
Submitted: (Sep 11, 2015)
Evidence details
Comment:
This sequence change replaces leucine with phenylalanine at codon 337 of the FANCC protein (p.Leu337Phe). The leucine residue is highly conserved and there is a ... (more)
Uncertain significance
(Oct 10, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149249.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted FANCC c.1009C>T at the cDNA level, p.Leu337Phe (L337F) at the protein level, and results in the change of a Leucine 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