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NM_001077418.3(TMEM231):c.140-9_140-8del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003798227.1

Allele description [Variation Report for NM_001077418.3(TMEM231):c.140-9_140-8del]

NM_001077418.3(TMEM231):c.140-9_140-8del

Genes:
LOC130059440:ATAC-STARR-seq lymphoblastoid silent region 7724 [Gene]
TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_001077418.3(TMEM231):c.140-9_140-8del
HGVS:
  • NC_000016.10:g.75555982_75555983del
  • NG_033109.1:g.5305_5306del
  • NG_193861.1:g.140_141del
  • NM_001077416.2:c.290_291del
  • NM_001077418.3:c.140-9_140-8delMANE SELECT
  • NP_001070884.2:p.Leu96_Phe97insTer
  • NC_000016.9:g.75589879_75589880del
  • NC_000016.9:g.75589880_75589881del
Molecular consequence:
  • NM_001077418.3:c.140-9_140-8del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077416.2:c.290_291del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Joubert syndrome 20 (JBTS20)
Identifiers:
MONDO: MONDO:0013994; MedGen: C3554235; Orphanet: 475; OMIM: 614970
Name:
Meckel syndrome, type 11 (MKS11)
Identifiers:
MONDO: MONDO:0014164; MedGen: C3809352; Orphanet: 564; OMIM: 615397

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004580073Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 1, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium., Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

PubMed [citation]
PMID:
23012439

Mutations in TMEM231 cause Meckel-Gruber syndrome.

Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS.

J Med Genet. 2013 Mar;50(3):160-2. doi: 10.1136/jmedgenet-2012-101431. Epub 2013 Jan 24.

PubMed [citation]
PMID:
23349226
PMCID:
PMC3585488
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004580073.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. This variant is present in population databases (rs751903254, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Phe97*) in the TMEM231 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM231 are known to be pathogenic (PMID: 23012439, 23349226).

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

Last Updated: Mar 5, 2024