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NM_001370298.3(FGD4):c.854A>T (p.Asp285Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jan 17, 2018
Accession:
VCV000577347.1
Variation ID:
577347
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.854A>T (p.Asp285Val)

Allele ID
571775
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32582310 (GRCh38) GRCh38 UCSC
12: 32735244 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_240:g.187782A>T
LRG_240t2:c.698A>T LRG_240p2:p.Asp233Val
LRG_240t1:c.443A>T LRG_240p1:p.Asp148Val
... more HGVS
Protein change
D148V, D233V, D55V, D285V
Other names
-
Canonical SPDI
NC_000012.12:32582309:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1565869688
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 Jan 17, 2018 RCV000700075.1
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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
(Jan 17, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type IV
Allele origin: germline
Invitae
Accession: SCV000828815.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with valine at codon 148 of the FGD4 protein (p.Asp148Val). The aspartic acid residue is highly conserved and there … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1565869688...

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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