U.S. flag

An official website of the United States government

NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jun 13, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000760437.18

Allele description [Variation Report for NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)]

NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)

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.253C>T (p.Arg85Ter)
Other names:
p.Arg85*
HGVS:
  • NC_000011.10:g.61397797C>T
  • NG_032976.1:g.10438C>T
  • NM_001173990.3:c.253C>TMANE SELECT
  • NM_001173991.3:c.253C>T
  • NM_001330285.2:c.70C>T
  • NM_016499.6:c.70C>T
  • NP_001167461.1:p.Arg85Ter
  • NP_001167462.1:p.Arg85Ter
  • NP_001317214.1:p.Arg24Ter
  • NP_057583.2:p.Arg24Ter
  • LRG_698t1:c.253C>T
  • LRG_698t2:c.253C>T
  • LRG_698:g.10438C>T
  • LRG_698p1:p.Arg85Ter
  • LRG_698p2:p.Arg85Ter
  • NC_000011.9:g.61165269C>T
  • NM_001173990.2:c.253C>T
  • NM_001173991.1:c.253C>T
  • NM_001173991.2:c.253C>T
Protein change:
R24*
Links:
dbSNP: rs11230683
NCBI 1000 Genomes Browser:
rs11230683
Molecular consequence:
  • NM_001173990.3:c.253C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173991.3:c.253C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330285.2:c.70C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016499.6:c.70C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890320GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 27, 2023) 		germlineclinical testing

Citation Link,

SCV002064402Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 24, 2017) 		germlineclinical testing

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

SCV002525803Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000890320.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in homozygous state in two siblings with Meckel syndrome in published literature (Valente et al., 2010; Szymanska et al., 2012) and in a fetus with encephalocele, kidney anomaly, eye abnormality, microcephaly, club foot, and short limbs previously tested at GeneDx, and not observed in homozygous state in controls; Observed in the heterozygous state with another variant in the TMEM216 gene in a patient with Joubert syndrome in published literature; however, it is unknown whether the two variants were present in cis or trans (Bachmann-Gagescu et al., 2015; Summers et al., 2017); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 20512146, 21068128, 23351400, 26092869, 28497568, 31589614)

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

From Genetic Services Laboratory, University of Chicago, SCV002064402.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV002525803.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

PM2, PS3, PVS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 10, 2024