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NM_022464.5(SIL1):c.1232G>A (p.Arg411His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000235533.6
Variation ID:
235533
Description:
single nucleotide variant
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NM_022464.5(SIL1):c.1232G>A (p.Arg411His)

Allele ID
237214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 138947271 (GRCh38) GRCh38 UCSC
5: 138282960 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.138947271C>T
NC_000005.9:g.138282960C>T
NG_008112.1:g.256106G>A
... more HGVS
Protein change
R411H
Other names
-
Canonical SPDI
NC_000005.10:138947270:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00018
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00065
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00052
The Genome Aggregation Database (gnomAD), exomes 0.00065
The Genome Aggregation Database (gnomAD) 0.00020
Links
ClinGen: CA3432341
dbSNP: rs192255604
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 20, 2019 RCV000224867.5
Likely benign 1 criteria provided, single submitter Aug 7, 2015 RCV000376395.1
Benign 1 criteria provided, single submitter Oct 26, 2020 RCV001080695.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SIL1 - - GRCh38
GRCh37
177 204

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Jun 15, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281188.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Likely benign
(Aug 07, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333348.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145633.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Marinesco-Sjögren syndrome
Allele origin: germline
Invitae
Accession: SCV001016920.3
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SIL1 - - - -

Text-mined citations for rs192255604...

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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 27, 2021