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NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Oct 10, 2018
Most recent Submission:
May 16, 2022
Last evaluated:
Jun 26, 2019
Accession:
VCV000569910.7
Variation ID:
569910
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys)

Allele ID
571237
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46050604 (GRCh38) GRCh38 UCSC
17: 44127970 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1949A>G MANE Select NP_056258.1:p.Tyr650Cys missense
NM_001193465.2:c.1949A>G NP_001180394.1:p.Tyr650Cys missense
NM_001193466.2:c.1949A>G NP_001180395.1:p.Tyr650Cys missense
... more HGVS
Protein change
Y650C
Other names
-
Canonical SPDI
NC_000017.11:46050603:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs777228945
VarSome
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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 26, 2019 RCV000690662.7
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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
1071 1218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Jun 26, 2019)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000818360.5
First in ClinVar: Oct 10, 2018
Last updated: May 16, 2022
Publications:
PubMed (1)
PubMed: 28492532

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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs777228945...

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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 Aug 24, 2022