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NM_001370298.3(FGD4):c.2404G>A (p.Val802Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 3, 2020
Accession:
VCV001041113.1
Variation ID:
1041113
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.2404G>A (p.Val802Met)

Allele ID
1030909
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32638745 (GRCh38) GRCh38 UCSC
12: 32791679 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.32791679G>A
NC_000012.12:g.32638745G>A
NG_008626.2:g.244217G>A
... more HGVS
Protein change
V417M, V750M, V802M, V481M, V572M, V665M, V321M
Other names
-
Canonical SPDI
NC_000012.12:32638744:G:A
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 Aug 3, 2020 RCV001344866.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Aug 03, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001538949.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with methionine at codon 665 of the FGD4 protein (p.Val665Met). The valine residue is highly conserved and there is a … (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 08, 2021