NM_004130.4(GYG1):c.143+3G>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000387284.3

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329983GeneDxcriteria provided, single submitter
Pathogenic
(Jul 14, 2017)
germlineclinical testing

Citation Link,

SCV002024931PerkinElmer Genomicsno assertion criteria providedPathogenic
(May 14, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000329983.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.143+3 G>C splice site variant in the GYG1 gene has been previously reported in association with polyglucoasen body myopathy in several unrelated individuals who were homozygous for c.143+3 G>C or heterozygous for c.143+3 G>C and a second pathogenic variant in the GYG1 gene (Malfatti et al., 2014; Akman et al., 2016). Functional analysis of c.143+3 G>C found that it results in abnormal splicing, leading to skipping of exon 2 (Malfatti et al., 2014). Therefore, we interpret c.143+3 G>C to be a pathogenic variant.

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

From PerkinElmer Genomics, SCV002024931.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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