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NM_000942.5(PPIB):c.344-1G>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Dec 10, 2019
Accession:
VCV000993834.2
Variation ID:
993834
Description:
single nucleotide variant
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NM_000942.5(PPIB):c.344-1G>T

Allele ID
981926
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.31
Genomic location
15: 64156910 (GRCh38) GRCh38 UCSC
15: 64449109 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.64449109C>A
NC_000015.10:g.64156910C>A
NM_024798.3:c.*2402C>A MANE Select 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:64156909: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 Dec 10, 2019 RCV001285947.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PPIB - - GRCh38
GRCh37
50 95
SNX22 - - - GRCh38
GRCh37
- 45

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 10, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472460.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The PPIB c.344-1G>T variant (rs748284900), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the general … (more)

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 May 29, 2021