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NM_004159.5(PSMB8):c.180C>T (p.Asn60=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 28, 2019
Accession:
VCV000356366.2
Variation ID:
356366
Description:
single nucleotide variant
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NM_004159.5(PSMB8):c.180C>T (p.Asn60=)

Allele ID
306908
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.32
Genomic location
6: 32843045 (GRCh38) GRCh38 UCSC
6: 32810822 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.32810822G>A
NC_000006.12:g.32843045G>A
NM_004159.5:c.180C>T NP_004150.1:p.Asn60= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00679 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00386
The Genome Aggregation Database (gnomAD) 0.00156
Exome Aggregation Consortium (ExAC) 0.00435
Trans-Omics for Precision Medicine (TOPMed) 0.00218
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00213
1000 Genomes Project 0.00679
Links
ClinGen: CA3746464
dbSNP: rs79482999
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000361613.3
Benign 1 criteria provided, single submitter Feb 28, 2019 RCV000859901.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PSMB8 - - GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
48 55

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000462140.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Feb 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000640468.3
Submitted: (Mar 14, 2019)
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 Dec 17, 2019