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NM_015443.4(KANSL1):c.2836A>G (p.Arg946Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 12, 2021)
Last evaluated:
May 12, 2021
Accession:
VCV001077139.1
Variation ID:
1077139
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.2836A>G (p.Arg946Gly)

Allele ID
1065773
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46033081 (GRCh38) GRCh38 UCSC
17: 44110447 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44110447T>C
NC_000017.11:g.46033081T>C
NM_015443.4:c.2836A>G MANE Select NP_056258.1:p.Arg946Gly missense
... more HGVS
Protein change
R945G, R946G
Other names
-
Canonical SPDI
NC_000017.11:46033080:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 May 12, 2021 RCV001391276.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
876 1035

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 12, 2021)
criteria provided, single submitter
Method: clinical testing
Dysplastic corpus callosum
fetal CNS anomalies
(Autosomal dominant inheritance)
Allele origin: de novo
Genetics Institute, Tel Aviv Sourasky Medical Center
Accession: SCV001593227.1
Submitted: (May 12, 2021)
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.

Record last updated May 14, 2021