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NM_001822.7(CHN1):c.*28T>C

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000332461.2
Variation ID:
332461
Description:
single nucleotide variant
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NM_001822.7(CHN1):c.*28T>C

Allele ID
285451
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.1
Genomic location
2: 174800088 (GRCh38) GRCh38 UCSC
2: 175664816 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.175664816A>G
NC_000002.12:g.174800088A>G
NG_012642.1:g.210355T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:174800087:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00799 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00317
The Genome Aggregation Database (gnomAD) 0.00526
1000 Genomes Project 0.00799
Trans-Omics for Precision Medicine (TOPMed) 0.00622
The Genome Aggregation Database (gnomAD), exomes 0.00137
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00448
Links
ClinGen: CA1974769
dbSNP: rs143852940
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000374291.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHN1 - - GRCh38
GRCh37
82 115

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Duane retraction syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000419507.3
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)

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 rs143852940...

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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