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NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 29, 2019
Accession:
VCV000952608.2
Variation ID:
952608
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe)

Allele ID
926610
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32633619 (GRCh38) GRCh38 UCSC
12: 32786553 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_240:g.239091G>T
LRG_240t2:c.2087G>T LRG_240p2:p.Cys696Phe
LRG_240t1:c.1832G>T LRG_240p1:p.Cys611Phe
... more HGVS
Protein change
C267F, C611F, C696F, C363F, C427F, C518F, C748F
Other names
-
Canonical SPDI
NC_000012.12:32633618:G:T
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 29, 2019 RCV001224745.2
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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
(Aug 29, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001396964.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces cysteine with phenylalanine at codon 611 of the FGD4 protein (p.Cys611Phe). The cysteine 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 24, 2021