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NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 19, 2019)
Last evaluated:
Jul 17, 2019
Accession:
VCV000214174.2
Variation ID:
214174
Description:
single nucleotide variant
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NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)

Allele ID
211429
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.31
Genomic location
10: 100988947 (GRCh38) GRCh38 UCSC
10: 102748704 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.102748704A>G
NC_000010.11:g.100988947A>G
NG_011646.1:g.3569T>C
... more HGVS
Protein change
N246S
Other names
p.N246S:AAT>AGT
Canonical SPDI
NC_000010.11:100988946:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA322899
dbSNP: rs754081544
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 17, 2012 RCV000198396.1
Uncertain significance 1 criteria provided, single submitter Jul 24, 2018 RCV000727648.1
Likely pathogenic 1 criteria provided, single submitter Jul 17, 2019 RCV000855770.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TWNK - - GRCh38
GRCh37
219 233

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 17, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000251208.11
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)
Uncertain significance
(Jul 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000854942.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Jul 17, 2019)
criteria provided, single submitter
Method: clinical testing
Perrault syndrome 5
(Autosomal recessive inheritance)
Allele origin: maternal
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
Accession: SCV000998985.1
Submitted: (Jul 19, 2019)
Comment:
found in compound heterozygous with c.1523A>G (p.Y508C)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TWNK - - - -

Text-mined citations for rs754081544...

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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 08, 2021