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NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2021)
Last evaluated:
Mar 30, 2021
Accession:
VCV000384827.5
Variation ID:
384827
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=)

Allele ID
365197
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6473263 (GRCh38) GRCh38 UCSC
1: 6533323 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.6473263G>A
NG_007978.1:g.51747C>T
NM_001042663.3:c.894C>T NP_001036128.2:p.Ser298= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:6473262:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00024
The Genome Aggregation Database (gnomAD) 0.00016
Exome Aggregation Consortium (ExAC) 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00029
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA561758
dbSNP: rs61738905
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 29, 2020 RCV000535016.4
Likely benign 1 criteria provided, single submitter Mar 30, 2021 RCV001703858.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PLEKHG5 - - GRCh38
GRCh37
671 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 29, 2020)
criteria provided, single submitter
Method: clinical testing
Distal spinal muscular atrophy, autosomal recessive 4
Charcot-Marie-Tooth disease, recessive intermediate c
Allele origin: germline
Invitae
Accession: SCV000646065.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 30, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000525876.4
Submitted: (Sep 25, 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 rs61738905...

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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