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NC_000009.11:g.(?_108456942)_(108468054_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 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:
RCV004582129.2

Allele description [Variation Report for NC_000009.11:g.(?_108456942)_(108468054_?)del]

NC_000009.11:g.(?_108456942)_(108468054_?)del

Gene:
TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q31.2
Genomic location:
Chr9: 108456942 - 108468054 (on Assembly GRCh37)
Preferred name:
NC_000009.11:g.(?_108456942)_(108468054_?)del
HGVS:
NC_000009.11:g.(?_108456942)_(108468054_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005062730Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 17, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

TRIC channels are essential for Ca2+ handling in intracellular stores.

Yazawa M, Ferrante C, Feng J, Mio K, Ogura T, Zhang M, Lin PH, Pan Z, Komazaki S, Kato K, Nishi M, Zhao X, Weisleder N, Sato C, Ma J, Takeshima H.

Nature. 2007 Jul 5;448(7149):78-82.

PubMed [citation]
PMID:
17611541

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS.

J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142.

PubMed [citation]
PMID:
23054245
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005062730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the TMEM38B gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM38B are known to be pathogenic (PMID: 17611541, 23054245). A similar copy number variant has been observed in individual(s) with osteogenesis imperfecta (PMID: 24835313). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024