NM_001077418.3(TMEM231):c.140-8dup AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 19, 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:: RCV003806770.2

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

NM_001077418.3(TMEM231):c.140-8dup

Genes:

LOC130059440:ATAC-STARR-seq lymphoblastoid silent region 7724 [Gene]
TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_001077418.3(TMEM231):c.140-8dup

HGVS:

NC_000016.10:g.75555983dup
NG_033109.1:g.5306dup
NG_193861.1:g.141dup
NM_001077416.2:c.291dup
NM_001077418.3:c.140-8dupMANE SELECT
NP_001070884.2:p.Asn98Ter
NC_000016.9:g.75589878_75589879insA
NC_000016.9:g.75589881dup

Protein change:

N98*

Molecular consequence:

NM_001077418.3:c.140-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001077416.2:c.291dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004596880	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 19, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23012439, 23349226, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004596880

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 19, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004596880.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn98*) 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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