Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 10, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000257315.6
Variation ID:
257315
Description:
single nucleotide variant
Help

NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)

Allele ID
250478
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q33.1
Genomic location
2: 201626051 (GRCh38) GRCh38 UCSC
2: 202490774 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.202490774A>G
NC_000002.12:g.201626051A>G
NG_032049.1:g.22479T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:201626050:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00138
Trans-Omics for Precision Medicine (TOPMed) 0.00201
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00178
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD), exomes 0.00047
The Genome Aggregation Database (gnomAD) 0.00175
Links
ClinGen: CA2056297
dbSNP: rs77570029
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 2, 2015 RCV000249394.2
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000952070.3
Likely benign 1 criteria provided, single submitter Jul 30, 2018 RCV001557671.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM237 - - GRCh38
GRCh37
265 297

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332423.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 14
Allele origin: germline
Invitae
Accession: SCV001098537.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 30, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001779476.1
Submitted: (Aug 10, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306316.1
Submitted: (Apr 28, 2016)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TMEM237 - - - -

Text-mined citations for rs77570029...

Help
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 Sep 23, 2021