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NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) AND Joubert syndrome 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001275257.1

Allele description [Variation Report for NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)]

NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)

Gene:
TMEM216:transmembrane protein 216 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.2
Genomic location:
Preferred name:
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
HGVS:
  • NC_000011.10:g.61392642G>A
  • NG_032976.1:g.5283G>A
  • NM_001173990.3:c.11G>AMANE SELECT
  • NM_001173991.3:c.11G>A
  • NM_001330285.2:c.-187G>A
  • NM_016499.6:c.-187G>A
  • NP_001167461.1:p.Arg4Gln
  • NP_001167462.1:p.Arg4Gln
  • LRG_698t1:c.11G>A
  • LRG_698t2:c.11G>A
  • LRG_698:g.5283G>A
  • LRG_698p1:p.Arg4Gln
  • LRG_698p2:p.Arg4Gln
  • NC_000011.9:g.61160114G>A
  • NC_000011.9:g.61160114G>A
  • NM_001173990.2:c.11G>A
Protein change:
R4Q
Links:
dbSNP: rs548299486
NCBI 1000 Genomes Browser:
rs548299486
Molecular consequence:
  • NM_001330285.2:c.-187G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016499.6:c.-187G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001173990.3:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173991.3:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Joubert syndrome 2 (JBTS2)
Synonyms:
Cerebellooculorenal syndrome 2
Identifiers:
MONDO: MONDO:0011963; MedGen: C1842577; Orphanet: 2318; OMIM: 608091

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001460230Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001460230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024