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NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Aug 13, 2021
Most recent Submission:
Aug 13, 2021
Last evaluated:
Jul 3, 2018
Accession:
VCV001194758.2
Variation ID:
1194758
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)

Allele ID
1185270
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171095 (GRCh38) GRCh38 UCSC
17: 44248461 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1049C>G MANE Select NP_056258.1:p.Ala350Gly missense
NM_001193465.2:c.1049C>G NP_001180394.1:p.Ala350Gly missense
NM_001193466.2:c.1049C>G NP_001180395.1:p.Ala350Gly missense
... more HGVS
Protein change
A350G
Other names
-
Canonical SPDI
NC_000017.11:46171094:G: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 benign 1 criteria provided, single submitter Jul 3, 2018 RCV001557612.2
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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
(Jul 03, 2018)
 criteria provided, single submitter
(GeneDx Variant Classification Process June 2021)
Method: clinical testing
 Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001779403.1
First in ClinVar: Aug 13, 2021
Last updated: Aug 13, 2021

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 Apr 25, 2022 

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