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NM_030930.3(UNC93B1):c.393-10C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Apr 17, 2018)
Last evaluated:
Nov 22, 2017
Accession:
VCV000403595.1
Variation ID:
403595
Description:
single nucleotide variant
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NM_030930.3(UNC93B1):c.393-10C>T

Allele ID
390020
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67999690 (GRCh38) GRCh38 UCSC
11: 67767160 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.67999690G>A
NC_000011.9:g.67767160G>A
NM_030930.3:c.393-10C>T
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00355
Exome Aggregation Consortium (ExAC) 0.00445
The Genome Aggregation Database (gnomAD), exomes 0.00316
Trans-Omics for Precision Medicine (TOPMed) 0.00295
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00294
1000 Genomes Project 0.00120
Links
dbSNP: rs117183629
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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 Nov 22, 2017 RCV000625144.1
Likely benign 1 criteria provided, single submitter Mar 29, 2016 RCV000454705.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UNC93B1 - - GRCh38
GRCh37
39 46

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000540646.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or ... (more)
Likely benign
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Herpes simplex encephalitis 1
Allele origin: germline
Genome Diagnostics Laboratory,University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743871.1
Submitted: (Apr 17, 2018)
Evidence details
Likely benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Herpes simplex encephalitis 1
Allele origin: germline
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745298.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(Nov 22, 2017)
criteria provided, single submitter
Method: clinical testing
Herpes simplex encephalitis 1
Allele origin: germline
Invitae
Accession: SCV000768807.1
Submitted: (Apr 02, 2018)
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 Jun 17, 2019