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NM_020549.4(CHAT):c.-17G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 19, 2018)
Last evaluated:
Aug 3, 2017
Accession:
VCV000193434.1
Variation ID:
193434
Description:
single nucleotide variant
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NM_020549.4(CHAT):c.-17G>A

Allele ID
190598
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49614173 (GRCh38) GRCh38 UCSC
10: 50822219 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.50822219G>A
NC_000010.11:g.49614173G>A
NM_001142929.1:c.-371G>A 5 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:49614172:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01977 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00337
The Genome Aggregation Database (gnomAD) 0.01550
1000 Genomes Project 0.01977
Exome Aggregation Consortium (ExAC) 0.00234
Links
ClinGen: CA200568
dbSNP: rs77152496
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 3, 2017 RCV000173503.4
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000313607.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729897.1
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)
Benign
(Nov 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224621.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://exac.broadinstitute.org/g…
http://www.ncbi.nlm.nih.gov/vari…

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.

Text-mined citations for rs77152496...

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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 23, 2021