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NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Sep 21, 2021)
Last evaluated:
Nov 13, 2019
Accession:
VCV000951650.6
Variation ID:
951650
Description:
single nucleotide variant
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NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)

Allele ID
922514
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q33.1
Genomic location
2: 201633389 (GRCh38) GRCh38 UCSC
2: 202498112 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.202498112G>C
NC_000002.12:g.201633389G>C
NG_032049.1:g.15141C>G
... more HGVS
Protein change
S106C, S98C
Other names
-
Canonical SPDI
NC_000002.12:201633388:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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, 2019 RCV001223614.1
Uncertain significance 2 no assertion criteria provided - RCV001529034.3
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 13, 2019)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 14
Allele origin: germline
Invitae
Accession: SCV001395770.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with cysteine at codon 106 of the TMEM237 protein (p.Ser106Cys). The serine residue is moderately conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741805.3
Submitted: (Sep 02, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001973328.1
Submitted: (Sep 21, 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.

Record last updated Oct 07, 2021