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NM_033022.4(RPS24):c.391-3C>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000301097.6
Variation ID:
301097
Description:
single nucleotide variant
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NM_033022.4(RPS24):c.391-3C>A

Allele ID
311253
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78040201 (GRCh38) GRCh38 UCSC
10: 79799959 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_033022.3:c.391-3C>A
LRG_1145:g.11442C>A
LRG_1145t2:c.*13-3C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:78040200:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.07248 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.06198
Exome Aggregation Consortium (ExAC) 0.02161
Trans-Omics for Precision Medicine (TOPMed) 0.07062
1000 Genomes Project 0.07248
The Genome Aggregation Database (gnomAD), exomes 0.01738
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.07350
Links
ClinGen: CA5572049
dbSNP: rs7899453
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Sep 27, 2017 RCV000506772.4
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000371000.5
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001093998.1
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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
88 104

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Diamond-Blackfan anemia 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000365268.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 23, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000605044.1
Submitted: (Jun 30, 2017)
Evidence details
Benign
(Sep 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729782.1
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)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital hypoplastic anemia
Allele origin: germline
Invitae
Accession: SCV000561419.4
Submitted: (Jan 07, 2021)
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.

Text-mined citations for rs7899453...

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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 Nov 20, 2021