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NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 27, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000666748.5
Variation ID:
666748
Description:
single nucleotide variant
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NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)

Allele ID
654437
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p22.3
Genomic location
6: 24872936 (GRCh38) GRCh38 UCSC
6: 24873164 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.24873164G>T
NM_001346031.2:c.281C>A NP_001332960.1:p.Thr94Lys missense
NM_001346032.2:c.281C>A NP_001332961.1:p.Thr94Lys missense
... more HGVS
Protein change
T94K, T128K, T123K
Other names
-
Canonical SPDI
NC_000006.12:24872935:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00060
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00228
Links
dbSNP: rs145166802
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 3 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000964176.4
Likely benign 1 criteria provided, single submitter Aug 16, 2018 RCV000825229.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RIPOR2 - - GRCh38
GRCh37
185 196

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000966511.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Thr94Lys variant in RIPOR2 is classified as likely benign because it has b een identified in 0.3% (403/126508) of European chromosomes by the Genome … (more)
Benign
(Dec 28, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145273.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001111365.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Sep 13, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001941409.1
Submitted: (Sep 27, 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 rs145166802...

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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