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NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Oct 27, 2019
Accession:
VCV000932123.2
Variation ID:
932123
Description:
single nucleotide variant
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NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)

Allele ID
919160
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.1
Genomic location
8: 54628790 (GRCh38) GRCh38 UCSC
8: 55541350 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.55541350C>A
NC_000008.11:g.54628790C>A
NG_009840.1:g.17724C>A
... more HGVS
Protein change
Y1636*
Other names
-
Canonical SPDI
NC_000008.11:54628789:C: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
Likely pathogenic 1 criteria provided, single submitter Oct 27, 2019 RCV001199314.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RP1 - - GRCh38
GRCh37
657 684

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 27, 2019)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 1
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001370394.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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