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NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 16, 2020
Accession:
VCV000380365.4
Variation ID:
380365
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=)

Allele ID
375632
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89282969 (GRCh38) GRCh38 UCSC
16: 89349377 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89282969G>C
NC_000016.9:g.89349377G>C
NG_032003.1:g.212593C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:89282968:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.02995 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02924
1000 Genomes Project 0.02995
Trans-Omics for Precision Medicine (TOPMed) 0.02763
Links
ClinGen: CA8242333
dbSNP: rs62000377
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 Jun 28, 2017 RCV000442931.1
Benign 1 criteria provided, single submitter Apr 19, 2016 RCV000715471.1
Benign 1 criteria provided, single submitter Nov 16, 2020 RCV001511268.1
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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
900 1011

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612330.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Sep 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518349.4
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
(Apr 19, 2016)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846300.2
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 16, 2020)
criteria provided, single submitter
Method: clinical testing
KBG syndrome
Allele origin: germline
Invitae
Accession: SCV001718479.1
Submitted: (Jan 07, 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 rs62000377...

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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