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NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
Mar 14, 2017
Accession:
VCV000589562.3
Variation ID:
589562
Description:
single nucleotide variant
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NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro)

Allele ID
580149
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89268623 (GRCh38) GRCh38 UCSC
16: 89335031 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89268623A>G
NC_000016.9:g.89335031A>G
NG_032003.1:g.226939T>C
... more HGVS
Protein change
L2616P
Other names
-
Canonical SPDI
NC_000016.10:89268622:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1567533174
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 14, 2017 RCV000719650.1
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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
967 1078

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 14, 2017)
criteria provided, single submitter
Method: clinical testing
Autism spectrum disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850520.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.L2616P variant (also known as c.7847T>C), located in coding exon 11 of the ANKRD11 gene, results from a T to C substitution at nucleotide … (more)

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 rs1567533174...

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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 10, 2021