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NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(1); Benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2
First in ClinVar:
Mar 1, 2018
Most recent Submission:
Feb 7, 2023
Last evaluated:
Aug 16, 2022
Accession:
VCV000444406.19
Variation ID:
444406
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)

Allele ID
438046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46039194 (GRCh38) GRCh38 UCSC
17: 44116560 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.2225G>A MANE Select NP_056258.1:p.Arg742Gln missense
NM_001193465.2:c.2225G>A NP_001180394.1:p.Arg742Gln missense
NM_001193466.2:c.2225G>A NP_001180395.1:p.Arg742Gln missense
... more HGVS
Protein change
R742Q
Other names
-
Canonical SPDI
NC_000017.11:46039193:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA8618624
dbSNP: rs752047149
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 1, 2017 RCV000513619.11
Benign 1 criteria provided, single submitter Aug 16, 2022 RCV001522310.5
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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 		1186 1333

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Uncertain significance
(Aug 01, 2017)
 criteria provided, single submitter
(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)
Method: clinical testing
 not provided
Affected status: yes
Allele origin: germline
CeGaT Center for Human Genetics Tuebingen
Accession: SCV000608823.18
First in ClinVar: Oct 30, 2017
Last updated: Jan 21, 2023
Number of individuals with the variant: 1
Benign
(Aug 16, 2022)
 criteria provided, single submitter
(Invitae Variant Classification Sherloc (09022015))
Method: clinical testing
 Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001731826.3
First in ClinVar: Jun 15, 2021
Last updated: Feb 07, 2023

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 rs752047149...

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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 Feb 07, 2023 

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