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NM_014252.4(SLC25A15):c.552T>C (p.Tyr184=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000312180.1
Variation ID:
312180
Description:
single nucleotide variant
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NM_014252.4(SLC25A15):c.552T>C (p.Tyr184=)

Allele ID
336567
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.11
Genomic location
13: 40807393 (GRCh38) GRCh38 UCSC
13: 41381529 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.41381529T>C
NC_000013.11:g.40807393T>C
NM_014252.4:c.552T>C NP_055067.1:p.Tyr184= synonymous
NG_012248.1:g.22983T>C
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA6959759
dbSNP: rs374352017
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000269816.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC25A15 - - GRCh38
GRCh37
104 142

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000384416.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

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 27, 2019