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NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 10, 2021)
Last evaluated:
Apr 10, 2020
Accession:
VCV000997562.2
Variation ID:
997562
Description:
single nucleotide variant
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NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys)

Allele ID
985274
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78054579 (GRCh38) GRCh38 UCSC
10: 79814337 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79814337G>A
NC_000010.11:g.78054579G>A
NG_012633.1:g.25820G>A
... more HGVS
Protein change
E147K
Other names
-
Canonical SPDI
NC_000010.11:78054578:G: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
Uncertain significance 1 criteria provided, single submitter Apr 10, 2020 RCV001292800.1
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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
Uncertain significance
(Apr 10, 2020)
criteria provided, single submitter
Method: clinical testing
Diamond-Blackfan anemia 3
Allele origin: paternal
Baylor Genetics
Study: CSER-TexasKidsCanSeq
Accession: SCV001481454.2
Submitted: (Feb 10, 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.

Record last updated Oct 08, 2021