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NM_020549.4(CHAT):c.287-4C>G

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 19, 2018
Accession:
VCV000750824.2
Variation ID:
750824
Description:
single nucleotide variant
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NM_020549.4(CHAT):c.287-4C>G

Allele ID
775499
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49616498 (GRCh38) GRCh38 UCSC
10: 50824544 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.50824544C>G
NC_000010.11:g.49616498C>G
NM_020984.3:c.-68-4C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:49616497:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
dbSNP: rs779267880
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 Sep 19, 2018 RCV000927831.1
Likely benign 1 criteria provided, single submitter Sep 6, 2018 RCV001454737.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHAT - - GRCh38
GRCh37
401 499

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001073429.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Sep 06, 2018)
criteria provided, single submitter
Method: clinical testing
Familial infantile myasthenia
Allele origin: germline
Invitae
Accession: SCV001658474.1
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 rs779267880...

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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 Jun 14, 2021