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NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 19, 2021)
Last evaluated:
Feb 5, 2021
Accession:
VCV000588320.8
Variation ID:
588320
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg)

Allele ID
580150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89280045 (GRCh38) GRCh38 UCSC
16: 89346453 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89280045A>C
NC_000016.9:g.89346453A>C
NG_032003.1:g.215517T>G
... more HGVS
Protein change
M2166R
Other names
-
Canonical SPDI
NC_000016.10:89280044:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00899 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00190
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00886
1000 Genomes Project 0.00899
Exome Aggregation Consortium (ExAC) 0.00231
Trans-Omics for Precision Medicine (TOPMed) 0.00946
The Genome Aggregation Database (gnomAD) 0.00838
Links
dbSNP: rs74033733
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 7, 2016 RCV000717111.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000870604.2
Likely benign 1 criteria provided, single submitter Feb 5, 2021 RCV001572237.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKRD11 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
900 1011

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
KBG syndrome
Allele origin: germline
Invitae
Accession: SCV001012121.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Oct 07, 2016)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000847957.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Likely benign
(Feb 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001796842.1
Submitted: (Aug 19, 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 rs74033733...

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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 Oct 02, 2021