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NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 10, 2021)
Last evaluated:
Mar 24, 2020
Accession:
VCV000589152.7
Variation ID:
589152
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)

Allele ID
580055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89279674 (GRCh38) GRCh38 UCSC
16: 89346082 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89279674G>A
NC_000016.9:g.89346082G>A
NG_032003.1:g.215888C>T
... more HGVS
Protein change
P2290S
Other names
-
Canonical SPDI
NC_000016.10:89279673:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00938 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00288
1000 Genomes Project 0.00938
The Genome Aggregation Database (gnomAD), exomes 0.00522
Exome Aggregation Consortium (ExAC) 0.02397
Links
dbSNP: rs374668457
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 May 8, 2017 RCV000718909.1
Benign 1 criteria provided, single submitter Feb 12, 2020 RCV001514090.1
Benign 1 criteria provided, single submitter Mar 24, 2020 RCV001637120.3
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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
899 1010

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 08, 2017)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849773.2
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;In silico models in agreement (benign);Insufficient or … (more)
Benign
(Feb 12, 2020)
criteria provided, single submitter
Method: clinical testing
KBG syndrome
Allele origin: germline
Invitae
Accession: SCV001721843.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 24, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001850621.1
Submitted: (Sep 10, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 24690944)

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 rs374668457...

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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