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NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 21, 2021)
Last evaluated:
Feb 27, 2020
Accession:
VCV000388721.2
Variation ID:
388721
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser)

Allele ID
370208
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1909461 (GRCh38) GRCh38 UCSC
8: 1857627 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1857627G>T
NC_000008.11:g.1909461G>T
NM_014629.4:c.2134G>T MANE Select NP_055444.2:p.Ala712Ser missense
... more HGVS
Protein change
A712S, A736S, A674S
Other names
-
Canonical SPDI
NC_000008.11:1909460:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16605472
dbSNP: rs1057523214
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 Sep 1, 2016 RCV000421442.1
Uncertain significance 1 criteria provided, single submitter Feb 27, 2020 RCV001330527.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARHGEF10 - - GRCh38
GRCh38
GRCh37
147 284

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 01, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000531082.4
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)
Uncertain significance
(Feb 27, 2020)
criteria provided, single submitter
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: unknown
Baylor Genetics
Accession: SCV001522234.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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 rs1057523214...

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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 Mar 28, 2021