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NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)

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Interpretation:
Likely benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 22, 2020)
Last evaluated:
May 21, 2020
Accession:
VCV000973668.1
Variation ID:
973668
Description:
single nucleotide variant
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NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)

Allele ID
961957
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78054968 (GRCh38) GRCh38 UCSC
10: 79814726 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1145:g.26209C>A
NC_000010.10:g.79814726C>A
NC_000010.11:g.78054968C>A
... more HGVS
Protein change
S276R
Other names
-
Canonical SPDI
NC_000010.11:78054967:C: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 benign 1 no assertion criteria provided May 21, 2020 RCV001267791.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RPS24 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
87 103

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 21, 2020)
no assertion criteria provided
Method: clinical testing
Diamond-Blackfan anemia 3
Allele origin: germline
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini
Accession: SCV001424109.1
Submitted: (May 22, 2020)
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.

Record last updated Oct 24, 2021