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NM_001370298.3(FGD4):c.499_501dup (p.Gly167dup)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 12, 2019
Accession:
VCV000852133.2
Variation ID:
852133
Description:
3bp duplication
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NM_001370298.3(FGD4):c.499_501dup (p.Gly167dup)

Allele ID
839841
Variant type
Duplication
Variant length
3 bp
Cytogenetic location
12p11.21
Genomic location
12: 32576444-32576445 (GRCh38) GRCh38 UCSC
12: 32729378-32729379 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_240:g.181917_181919dup
LRG_240t2:c.343_345dup LRG_240p2:p.Gly115dup
LRG_240t1:c.88_90dup LRG_240p1:p.Gly30dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:32576444:GGC:GGCGGC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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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 Apr 12, 2019 RCV001056687.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGD4 - - GRCh38
GRCh37
501 537

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 12, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001221142.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.88_90dup, results in the insertion of 1 amino acid(s) to the FGD4 protein (p.Gly30dup), but otherwise preserves the integrity of the reading frame. … (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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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 Oct 24, 2021