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NM_004130.4(GYG1):c.143+3G>C AND Glycogen storage disease XV

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 17, 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:
RCV001090151.3

Allele description [Variation Report for NM_004130.4(GYG1):c.143+3G>C]

NM_004130.4(GYG1):c.143+3G>C

Gene:
GYG1:glycogenin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_004130.4(GYG1):c.143+3G>C
HGVS:
  • NC_000003.12:g.148994280G>C
  • NG_027677.1:g.7873G>C
  • NM_001184720.2:c.143+3G>C
  • NM_001184721.2:c.143+3G>C
  • NM_004130.4:c.143+3G>CMANE SELECT
  • NC_000003.11:g.148712067G>C
  • NM_004130.3:c.143+3G>C
  • p.Asp3Glufs*4
Nucleotide change:
IVS2DS, G-C, +3
Links:
OMIM: 603942.0003; dbSNP: rs370652040
NCBI 1000 Genomes Browser:
rs370652040
Molecular consequence:
  • NM_001184720.2:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184721.2:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004130.4:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Glycogen storage disease XV (GSD15)
Synonyms:
GLYCOGENIN DEFICIENCY; GSD XV
Identifiers:
MONDO: MONDO:0013291; MedGen: C3150754; Orphanet: 263297; OMIM: 613507

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245599Undiagnosed Diseases Network, NIH
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 17, 2019) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Undiagnosed Diseases Network, NIH, SCV001245599.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedbloodnot provided1not provided1not provided

Last Updated: Sep 29, 2024