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NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Aug 13, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000238200.9
Variation ID:
238200
Description:
single nucleotide variant
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NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)

Allele ID
238353
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p22.1
Genomic location
1: 92837557 (GRCh38) GRCh38 UCSC
1: 93303114 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1155t1:c.629A>G LRG_1155p1:p.Tyr210Cys
NC_000001.10:g.93303114A>G
NC_000001.11:g.92837557A>G
... more HGVS
Protein change
Y210C
Other names
-
Canonical SPDI
NC_000001.11:92837556:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00470
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD) 0.00509
Trans-Omics for Precision Medicine (TOPMed) 0.00595
Exome Aggregation Consortium (ExAC) 0.00446
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00562
Links
ClinGen: CA952529
UniProtKB: P46777#VAR_052009
dbSNP: rs11540832
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 5, 2020 RCV000513699.6
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000233634.8
Likely benign 1 criteria provided, single submitter Mar 10, 2016 RCV000503324.1
Likely benign 1 criteria provided, single submitter May 28, 2019 RCV000986343.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001093892.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DIPK1A - - GRCh38
GRCh37
- 114
RPL5 - - GRCh38
GRCh37
22 136

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 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000359147.3
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 03, 2020)
criteria provided, single submitter
Method: clinical testing
Diamond-Blackfan anemia
Allele origin: germline
Invitae
Accession: SCV000285644.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 10, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000596793.1
Submitted: (Jul 05, 2017)
Evidence details
Likely benign
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000609877.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Diamond-Blackfan anemia 1
Allele origin: unknown
Mendelics
Accession: SCV001135318.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Aug 05, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001782153.1
Submitted: (Aug 13, 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 rs11540832...

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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 Sep 29, 2021