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NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 10, 2021)
Last evaluated:
May 10, 2021
Accession:
VCV000589037.6
Variation ID:
589037
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)

Allele ID
580442
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89284779 (GRCh38) GRCh38 UCSC
16: 89351187 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89284779G>A
NC_000016.9:g.89351187G>A
NG_032003.1:g.210783C>T
... more HGVS
Protein change
S588L
Other names
-
Canonical SPDI
NC_000016.10:89284778:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00013
Links
dbSNP: rs202142344
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 Sep 17, 2020 RCV000718681.2
Uncertain significance 1 criteria provided, single submitter Jun 21, 2019 RCV001281509.1
Likely benign 1 criteria provided, single submitter May 10, 2021 RCV001556943.2

Clinical features observed in individuals with this variant

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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
Likely benign
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849545.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Uncertain significance
(Jun 21, 2019)
criteria provided, single submitter
Method: clinical testing
Intellectual disability
(Autosomal dominant inheritance)
Allele origin: germline
New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001468818.1
Submitted: (Dec 04, 2020)
Evidence details
Likely benign
(May 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001778617.1
Submitted: (Aug 10, 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 rs202142344...

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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 20, 2021