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NC_000003.11:g.(?_148709428)_(148709454_?)del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004582221.2

Allele description [Variation Report for NC_000003.11:g.(?_148709428)_(148709454_?)del]

NC_000003.11:g.(?_148709428)_(148709454_?)del

Gene:
GYG1:glycogenin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q24
Genomic location:
Chr3: 148709428 - 148709454 (on Assembly GRCh37)
Preferred name:
NC_000003.11:g.(?_148709428)_(148709454_?)del
HGVS:
NC_000003.11:g.(?_148709428)_(148709454_?)del

Condition(s)

Name:
Glycogen storage disease XV (GSD15)
Synonyms:
GLYCOGENIN DEFICIENCY; GSD XV
Identifiers:
MONDO: MONDO:0013291; MedGen: C3150754; Orphanet: 263297; OMIM: 613507
Name:
Polyglucosan body myopathy type 2
Identifiers:
MONDO: MONDO:0014526; MedGen: C4015452; Orphanet: 456369; OMIM: 616199

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005066344Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Mar 18, 2023)
unknownclinical testing

PubMed (3)
[]

Last Updated: Sep 29, 2024

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