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NM_000136.3(FANCC):c.1037dup (p.Ser347fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Nov 25, 2015
Accession:
VCV000370120.1
Variation ID:
370120
Description:
1bp duplication
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NM_000136.3(FANCC):c.1037dup (p.Ser347fs)

Allele ID
357829
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95117349-95117350 (GRCh38) GRCh38 UCSC
9: 97879631-97879632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.97879633dup
NC_000009.12:g.95117351dup
NG_011707.1:g.205360dup
... more HGVS
Protein change
S347fs
Other names
-
Canonical SPDI
NC_000009.12:95117349:GG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041343
dbSNP: rs1057516248
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 Nov 25, 2015 RCV000409572.1
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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
437 1074

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 25, 2015)
criteria provided, single submitter
Method: clinical testing
Fanconi anemia, complementation group C
Allele origin: unknown
Counsyl
Accession: SCV000485354.1
Submitted: (Nov 23, 2016)
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 rs1057516248...

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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 Oct 24, 2021