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NC_000023.10:g.(?_82763333)_(86924394_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 13, 2019
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:
RCV001033898.2

Allele description [Variation Report for NC_000023.10:g.(?_82763333)_(86924394_?)del]

NC_000023.10:g.(?_82763333)_(86924394_?)del

Genes:
Variant type:
Deletion
Cytogenetic location:
Xq21.1-21.31
Genomic location:
ChrX: 82763333 - 86924394 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_82763333)_(86924394_?)del
HGVS:
NC_000023.10:g.(?_82763333)_(86924394_?)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
SCV001197205Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 13, 2019) 		germlineclinical testing

PubMed (8)
[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

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.

Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11.

PubMed [citation]
PMID:
21905166

Phenotype variations within a choroideremia family lacking the entire CHM gene.

Ponjavic V, Abrahamson M, Andréasson S, Van Bokhoven H, Cremers FP, Ehinger B, Fex G.

Ophthalmic Genet. 1995 Dec;16(4):143-50.

PubMed [citation]
PMID:
8749050
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001197205.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the CHM gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion has been observed in several individuals affected with choroideremia (PMID: 26133251, 7981671, 21905166, 23811034) and segregated with choroideremia in several families (PMID: 8749050, 17698759). Larger deletions involving this and neighboring genes have also been reported in families with choroideremia, deafness, and intellectual disability (PMID: 3476958). Loss-of-function variants in CHM are known to be pathogenic (PMID: 9067750, 23811034). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024