ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Apr 13, 2021
- Most recent Submission:
- Apr 13, 2021
- Last evaluated:
- Apr 6, 2021
- Accession:
- VCV000617665.2
- Variation ID:
- 617665
- Description:
- single nucleotide variant
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NM_001019.5(RPS15A):c.213G>A (p.Lys71=)
- Allele ID
- 609068
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 16p12.3
- Genomic location
- 16: 18788063 (GRCh38) GRCh38 UCSC
- 16: 18799385 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNM_001019.5:c.213G>A MANE Select NP_001010.2:p.Lys71= synonymous NM_001030009.2:c.213G>A NP_001025180.1:p.Lys71= synonymous NC_000016.10:g.18788063C>T NC_000016.9:g.18799385C>T - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000016.10:18788062:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 603674.0001
- dbSNP: rs1567287990
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Apr 6, 2021 | RCV000754827.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Apr 06, 2021)
|
no assertion criteria provided
Method: literature only
|
DIAMOND-BLACKFAN ANEMIA 20 (1 family)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000882708.2
First in ClinVar: Feb 11, 2019 Last updated: Apr 13, 2021 |
Comment on evidence:
In a mother and her 2 daughters with Diamond-Blackfan anemia-20 (DBA20; 618313), Ikeda et al. (2017) identified a heterozygous c.213G-A transition (c.213G-A, NM_001019.4) in the … (more)
In a mother and her 2 daughters with Diamond-Blackfan anemia-20 (DBA20; 618313), Ikeda et al. (2017) identified a heterozygous c.213G-A transition (c.213G-A, NM_001019.4) in the last nucleotide of exon 3 of the RPS15A gene that, although a synonymous change (K71K), was demonstrated to cause abnormal splicing, with deletion of the third exon, loss of function, and haploinsufficiency. The mutation, which was found by whole-exome sequencing and confirmed by direct sequencing, segregated with the disorder in the family. It was not found in the ExAC database. Expression of the mutation in human erythroid K562 cells showed that it suppressed cell proliferation and caused abnormal levels of several pre-rRNA subunits, indicating disturbed RNA processing. The family was 1 of 141 families in the cohort, thus accounting for 0.7%. (less)
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. | Ikeda F | Haematologica | 2017 | PMID: 27909223 |
Text-mined citations for rs1567287990...
HelpThese 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 Apr 25, 2022