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NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Jun 10, 2019
Accession:
VCV000930476.2
Variation ID:
930476
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys)

Allele ID
919145
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1923846 (GRCh38) GRCh38 UCSC
8: 1872012 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1872012C>G
NC_000008.11:g.1923846C>G
NM_014629.4:c.2460C>G MANE Select NP_055444.2:p.Asn820Lys missense
... more HGVS
Protein change
N844K, N820K, N782K
Other names
-
Canonical SPDI
NC_000008.11:1923845:C:G
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 Jun 10, 2019 RCV001196158.1
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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
Uncertain significance
(Jun 10, 2019)
criteria provided, single submitter
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366679.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting.

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 Dec 12, 2020