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NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000308289.6
Variation ID:
308289
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)

Allele ID
330495
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32601319 (GRCh38) GRCh38 UCSC
12: 32754253 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.12:g.32601319G>A
NG_008626.2:g.206791G>A
NM_001304481.1:c.987G>A NP_001291410.1:p.Ser329= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:32601318:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00819 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00173
Trans-Omics for Precision Medicine (TOPMed) 0.00533
The Genome Aggregation Database (gnomAD) 0.00555
Trans-Omics for Precision Medicine (TOPMed) 0.00583
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00600
The Genome Aggregation Database (gnomAD), exomes 0.00137
The Genome Aggregation Database (gnomAD) 0.00487
1000 Genomes Project 0.00819
Links
ClinGen: CA6506712
dbSNP: rs34555341
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000539868.6
Benign 1 criteria provided, single submitter Feb 2, 2018 RCV000604589.1
Likely benign 1 criteria provided, single submitter - RCV001174102.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001094092.1
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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
503 539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4H
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000378174.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Feb 02, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000716610.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001337223.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000657985.4
Submitted: (Jan 07, 2021)
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 rs34555341...

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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 Nov 27, 2021