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NM_005751.5(AKAP9):c.5108del (p.Lys1703fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 31, 2020)
Last evaluated:
Dec 21, 2020
Accession:
VCV000992476.1
Variation ID:
992476
Description:
1bp deletion
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NM_005751.5(AKAP9):c.5108del (p.Lys1703fs)

Allele ID
980164
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92042714 (GRCh38) GRCh38 UCSC
7: 91672028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.91672031del
NC_000007.14:g.92042717del
NM_005751.5:c.5108del MANE Select NP_005742.4:p.Lys1703fs frameshift
... more HGVS
Protein change
K1703fs
Other names
-
Canonical SPDI
NC_000007.14:92042713:AAAA:AAA
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 Dec 21, 2020 RCV001280934.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AKAP9 - - GRCh38
GRCh37
1074 1106

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 21, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001468280.1
Submitted: (Dec 31, 2020)
Evidence details
Comment:
Variant summary: AKAP9 c.5108delA (p.Lys1703ArgfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)

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 14, 2021