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NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Mar 26, 2021
Accession:
VCV000450756.4
Variation ID:
450756
Description:
1bp duplication
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NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)

Allele ID
443526
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 9475610-9475611 (GRCh38) GRCh38 UCSC
3: 9517294-9517295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001080517.1:c.3855dupC
NC_000003.11:g.9517301dup
NC_000003.12:g.9475617dup
... more HGVS
Protein change
S1188fs, S1286fs
Other names
-
Canonical SPDI
NC_000003.12:9475610:CCCCCCC:CCCCCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645526497
dbSNP: rs1553641476
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 26, 2021 RCV000523957.2
Likely pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000987091.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SETD5 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
323 376

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 26, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000619370.3
Submitted: (Sep 23, 2021)
Evidence details
Comment:
Frameshift variant predicted to result in protein truncation, as the last 157 amino acids are replaced with 36 different amino acids, and other loss-of-function variants … (more)
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 23
Allele origin: unknown
Mendelics
Accession: SCV001136289.1
Submitted: (Oct 22, 2019)
Evidence details

Functional evidence

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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

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1553641476...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 25, 2021