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NM_001365068.1(ASTN2):c.2806+26571G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000095496.3
Variation ID:
95496
Description:
single nucleotide variant
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NM_001365068.1(ASTN2):c.2806+26571G>A

Allele ID
101395
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q33.1
Genomic location
9: 116699200 (GRCh38) GRCh38 UCSC
9: 119461479 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_211t1:c.1458C>T LRG_211p1:p.Thr486=
LRG_211:g.16899C>T
NC_000009.11:g.119461479C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:116699199:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Links
ClinGen: CA223032
dbSNP: rs141965401
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 Nov 13, 2017 RCV000081523.6
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001168408.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001168407.1
Likely benign 1 criteria provided, single submitter Nov 25, 2020 RCV001414311.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ASTN2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
67 484
TRIM32 - - GRCh38
GRCh37
1 406

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113454.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Sarcotubular myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001330993.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001330994.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome
Allele origin: germline
Invitae
Accession: SCV001616442.1
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TRIM32 - - - -

Text-mined citations for rs141965401...

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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