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.3162A>G (p.Lys1054=)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000377486.6
Variation ID:
377486
Description:
single nucleotide variant
Help

NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=)

Allele ID
374759
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89283380 (GRCh38) GRCh38 UCSC
16: 89349788 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89283380T>C
NC_000016.9:g.89349788T>C
NG_032003.1:g.212182A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:89283379:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.02376 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00494
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02247
1000 Genomes Project 0.02376
Exome Aggregation Consortium (ExAC) 0.00639
The Genome Aggregation Database (gnomAD) 0.01831
Trans-Omics for Precision Medicine (TOPMed) 0.02170
Links
ClinGen: CA8242416
dbSNP: rs61729371
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 25, 2016 RCV000439082.1
Benign 1 criteria provided, single submitter Nov 3, 2017 RCV000710553.4
Benign 1 criteria provided, single submitter May 6, 2016 RCV000715743.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV001082383.1
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
900 1011

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512049.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840794.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(May 06, 2016)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846574.2
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: SCV001006282.2
Submitted: (Jan 29, 2020)
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 rs61729371...

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