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NM_005025.4(SERPINI1):c.-283C>T

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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:
VCV000344115.1
Variation ID:
344115
Description:
single nucleotide variant
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NM_005025.4(SERPINI1):c.-283C>T

Allele ID
289457
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.1
Genomic location
3: 167735871 (GRCh38) GRCh38 UCSC
3: 167453659 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.167735871C>T
NC_000003.11:g.167453659C>T
NM_005025.4:c.-283C>T 5 prime UTR
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs886058167
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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 RCV000331710.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SERPINI1 - - GRCh38
GRCh37
55 81

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
Familial Encephalopathy with Neuroserpin Inclusion Bodies
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000442062.2
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 Mar 29, 2019