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NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 21, 2020)
Last evaluated:
Apr 18, 2018
Accession:
VCV000973265.1
Variation ID:
973265
Description:
single nucleotide variant
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NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser)

Allele ID
961602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 9441723 (GRCh38) GRCh38 UCSC
3: 9483407 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.9483407A>G
NC_000003.12:g.9441723A>G
NG_034132.1:g.49024A>G
... more HGVS
Protein change
N216S, N314S
Other names
-
Canonical SPDI
NC_000003.12:9441722:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2041315307
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 18, 2018 RCV001249686.1
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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
358 412

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 18, 2018)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 23
Allele origin: germline
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital
Accession: SCV001423682.1
Submitted: (May 21, 2020)
Evidence details
Comment:
[ACMG/AMP: PS2, PM2, PP3, BP1] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], … (more)

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 rs2041315307...

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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 Nov 27, 2021