Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 26, 2020)
Accession:
VCV000982129.1
Variation ID:
982129
Description:
4bp deletion
Help

NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)

Allele ID
970214
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
6q25.3
Genomic location
6: 158148909-158148912 (GRCh38) GRCh38 UCSC
6: 158569941-158569944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.158569943_158569946del
NC_000006.12:g.158148911_158148914del
NG_032889.1:g.24369_24372del
... more HGVS
Protein change
R103fs
Other names
-
Canonical SPDI
NC_000006.12:158148908:TTTCTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter - RCV001261649.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SERAC1 - - GRCh38
GRCh37
215 241

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438948.1
Submitted: (May 26, 2020)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
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 08, 2021