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NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jun 3, 2022
Most recent Submission:
Jun 3, 2022
Last evaluated:
Jan 3, 2022
Accession:
VCV001333224.1
Variation ID:
1333224
Description:
2bp deletion
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NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs)

Allele ID
1324000
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
17q21.31
Genomic location
17: 46094578-46094579 (GRCh38) GRCh38 UCSC
17: 44171944-44171945 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1412_1413del MANE Select NP_056258.1:p.Lys471fs frameshift
NM_001193465.2:c.1412_1413del NP_001180394.1:p.Lys471fs frameshift
NM_001193466.2:c.1412_1413del NP_001180395.1:p.Lys471fs frameshift
... more HGVS
Protein change
K471fs
Other names
-
Canonical SPDI
NC_000017.11:46094577:TTT:T
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 Jan 3, 2022 RCV001807912.1
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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
1056 1199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Jan 03, 2022)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: yes
Allele origin: germline
3billion
Accession: SCV002058186.1
First in ClinVar: Jun 03, 2022
Last updated: Jun 03, 2022
Comment:
Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported … (more)
Clinical Features:
Abnormal facial shape (present) , Failure to thrive (present) , Global developmental delay (present) , Cryptorchidism (present) , Intellectual disability, mild (present)
Zygosity: 1 Single Heterozygote

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 Jun 03, 2022