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NM_013275.6(ANKRD11):c.7087C>G (p.Pro2363Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Oct 4, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000588871.4
Variation ID:
588871
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.7087C>G (p.Pro2363Ala)

Allele ID
580160
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89279455 (GRCh38) GRCh38 UCSC
16: 89345863 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89279455G>C
NC_000016.9:g.89345863G>C
NG_032003.1:g.216107C>G
... more HGVS
Protein change
P2363A
Other names
-
Canonical SPDI
NC_000016.10:89279454:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00007
Links
dbSNP: rs769501453
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 11, 2017 RCV000718324.1
Likely benign 1 criteria provided, single submitter Jul 1, 2021 RCV001726322.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKRD11 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
967 1078

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 11, 2017)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849186.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.P2363A variant (also known as c.7087C>G), located in coding exon 7 of the ANKRD11 gene, results from a C to G substitution at nucleotide … (more)
Likely benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001961625.1
Submitted: (Oct 04, 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 rs769501453...

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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 Nov 10, 2021