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NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 17, 2021)
Last evaluated:
May 20, 2021
Accession:
VCV001174511.1
Variation ID:
1174511
Description:
single nucleotide variant
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NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)

Allele ID
1163753
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 20169469 (GRCh38) GRCh38 UCSC
X: 20187587 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.20187587T>A
NC_000023.11:g.20169469T>A
NM_004586.3:c.1376A>T MANE Select NP_004577.1:p.Asp459Val missense
NG_007488.1:g.102164A>T
Protein change
D459V
Other names
-
Canonical SPDI
NC_000023.11:20169468:T:A
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
Likely pathogenic 1 no assertion criteria provided May 20, 2021 RCV001528143.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RPS6KA3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
213 387

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(May 20, 2021)
no assertion criteria provided
Method: clinical testing
Coffin-Lowry syndrome
Affected status: yes
Allele origin: germline
Clinical Genetics Laboratory,University Hospital Schleswig-Holstein
Accession: SCV001739354.1
Submitted: (Jun 17, 2021)

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 Jul 07, 2021