NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) AND Joubert syndrome 14

Clinical significance:Uncertain significance (Last evaluated: Sep 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001324708.1

Allele description [Variation Report for NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)]

NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)

Gene:
TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
HGVS:
  • NC_000002.12:g.201633409T>C
  • NG_032049.1:g.15121A>G
  • NM_001044385.3:c.297A>GMANE SELECT
  • NM_152388.4:c.273A>G
  • NP_001037850.1:p.Gln99=
  • NP_689601.2:p.Gln91=
  • NC_000002.11:g.202498132T>C
  • NM_001044385.2:c.297A>G
Links:
dbSNP: rs767711440
NCBI 1000 Genomes Browser:
rs767711440
Molecular consequence:
  • NM_001044385.3:c.297A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152388.4:c.273A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Joubert syndrome 14 (JBTS14)
Identifiers:
MONDO: MONDO:0013745; MedGen: C3280766; OMIM: 614424

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001515673Invitaecriteria provided, single submitter
Uncertain significance
(Sep 9, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001515673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change affects codon 99 of the TMEM237 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TMEM237 protein. This variant is present in population databases (rs767711440, ExAC 0.006%). This variant has not been reported in the literature in individuals with TMEM237-related disease. ClinVar contains an entry for this variant (Variation ID: 257318). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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