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NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 19, 2021)
Last evaluated:
Nov 14, 2020
Accession:
VCV000585411.6
Variation ID:
585411
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=)

Allele ID
577588
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89282198 (GRCh38) GRCh38 UCSC
16: 89348606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89282198A>G
NC_000016.9:g.89348606A>G
NG_032003.1:g.213364T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:89282197:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.01378 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.02431
The Genome Aggregation Database (gnomAD) 0.02342
The Genome Aggregation Database (gnomAD), exomes 0.02771
1000 Genomes Project 0.01378
Exome Aggregation Consortium (ExAC) 0.02814
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02955
Links
dbSNP: rs61744778
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Sep 13, 2018 RCV000710558.3
Benign 1 criteria provided, single submitter Mar 13, 2016 RCV000715687.1
Benign 1 criteria provided, single submitter Nov 14, 2020 RCV001522390.1
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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
899 1010

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840799.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Mar 13, 2016)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846518.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Nov 14, 2020)
criteria provided, single submitter
Method: clinical testing
KBG syndrome
Allele origin: germline
Invitae
Accession: SCV001731923.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 13, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001900360.1
Submitted: (Sep 19, 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 rs61744778...

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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