Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 28, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000376944.6
Variation ID:
376944
Description:
single nucleotide variant
Help

NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)

Allele ID
363822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89280436 (GRCh38) GRCh38 UCSC
16: 89346844 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89280436C>T
NC_000016.9:g.89346844C>T
NG_032003.1:g.215126G>A
... more HGVS
Protein change
D2036N
Other names
-
Canonical SPDI
NC_000016.10:89280435:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00639 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00155
Trans-Omics for Precision Medicine (TOPMed) 0.00646
The Genome Aggregation Database (gnomAD) 0.00650
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00357
Exome Aggregation Consortium (ExAC) 0.00196
1000 Genomes Project 0.00639
Links
ClinGen: CA8241587
dbSNP: rs201636725
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 24, 2018 RCV000435253.4
Benign 1 criteria provided, single submitter Nov 23, 2016 RCV000717467.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV001088930.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Jan 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000510923.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Nov 23, 2016)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000848319.2
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
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
KBG syndrome
Allele origin: germline
Invitae
Accession: SCV001006072.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Sep 24, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001943896.1
Submitted: (Sep 28, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs201636725...

Help
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 08, 2021