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NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000191531.7
Variation ID:
191531
Description:
single nucleotide variant
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NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His)

Allele ID
189307
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92102769 (GRCh38) GRCh38 UCSC
7: 91732083 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.91732083G>A
NC_000007.14:g.92102769G>A
NM_005751.4:c.11273G>A NP_005742.4:p.Arg3758His missense
... more HGVS
Protein change
R3758H, R3750H
Other names
-
Canonical SPDI
NC_000007.14:92102768:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00170
The Genome Aggregation Database (gnomAD) 0.00178
Exome Aggregation Consortium (ExAC) 0.00156
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
Trans-Omics for Precision Medicine (TOPMed) 0.00113
1000 Genomes Project 0.00160
Links
ClinGen: CA236915
dbSNP: rs141856443
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 24, 2013 RCV000171734.3
Likely benign 1 criteria provided, single submitter Feb 3, 2019 RCV000248078.3
Benign 1 criteria provided, single submitter Oct 30, 2018 RCV000853027.1
Benign 1 criteria provided, single submitter Oct 24, 2020 RCV001085477.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AKAP9 - - GRCh38
GRCh37
1042 1073

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000055249.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Benign
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy
Amyloidosis
Allele origin: germline
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego
Accession: SCV000995784.1
Submitted: (Jun 12, 2019)
Evidence details
Likely benign
(Feb 03, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319039.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Benign
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000563320.6
Submitted: (Jan 07, 2021)
Evidence details

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 rs141856443...

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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 Jul 29, 2021