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NM_002772.2(TMPRSS15):c.2135C>G (p.Ser712Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Aug 27, 2018
Accession:
VCV000004164.2
Variation ID:
4164
Description:
single nucleotide variant
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NM_002772.2(TMPRSS15):c.2135C>G (p.Ser712Ter)

Allele ID
19203
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q21.1
Genomic location
21: 18312975 (GRCh38) GRCh38 UCSC
21: 19685292 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.9:g.18312975G>C
NC_000021.8:g.19685292G>C
NM_002772.2:c.2135C>G NP_002763.2:p.Ser712Ter nonsense
NG_012207.1:g.95679C>G
Protein change
S712*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00065
Trans-Omics for Precision Medicine (TOPMed) 0.00080
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00065
The Genome Aggregation Database (gnomAD) 0.00068
Links
OMIM: 606635.0001
dbSNP: rs77200626
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 27, 2018 RCV000522000.1
Pathogenic 1 no assertion criteria provided Jan 1, 2002 RCV000004381.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMPRSS15 - - GRCh38
GRCh37
6 69

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000616897.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The S712X variant in the TMPRSS15 gene has been reported previously as compound heterozygous with another nonsense allele in two siblings with congenital enteropeptidase defiency ... (more)
Pathogenic
(Jan 01, 2002)
no assertion criteria provided
Method: literature only
ENTEROKINASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000024553.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Holzinger A American journal of human genetics 2002 PMID: 11719902
Intestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression. Hadorn B Archives of disease in childhood 1975 PMID: 1147667

Record last updated May 09, 2019