ClinVar Genomic variation as it relates to human health
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000231.3(SGCG):c.87dup (p.Gly30fs)
Variation ID: 2008 Accession: VCV000002008.9
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 13q12.12 13: 23203780-23203781 (GRCh38) [ NCBI UCSC ] 13: 23777919-23777920 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 28, 2018 Feb 14, 2024 Jun 16, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000231.3:c.87dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000222.2:p.Gly30fs frameshift NM_000231.2:c.87dupT frameshift NM_001378244.1:c.141dup NP_001365173.1:p.Gly48fs frameshift NM_001378245.1:c.87dup NP_001365174.1:p.Gly30fs frameshift NM_001378246.1:c.87dup NP_001365175.1:p.Gly30fs frameshift NC_000013.11:g.23203781dup NC_000013.10:g.23777920dup NG_008759.1:g.27861dup LRG_207:g.27861dup LRG_207t1:c.87dup - Protein change
- G30fs, G48fs
- Other names
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- Canonical SPDI
- NC_000013.11:23203780:T:TT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
- Comment on variant
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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SGCG | - | - |
GRCh38 GRCh37 |
535 | 641 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jun 16, 2023 | RCV000002085.12 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2C
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002021241.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 24, 2021)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2C
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004201067.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jun 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2C
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001584145.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2008). This premature translational stop signal … (more)
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2008). This premature translational stop signal has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 8923014, 27759885). This variant is present in population databases (rs762777463, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly30Trpfs*30) in the SGCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). (less)
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Pathogenic
(Jan 01, 2000)
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no assertion criteria provided
Method: literature only
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000022243.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 28, 2018 |
Comment on evidence:
McNally et al. (1996) identified an apparently homozygous 1-bp insertion in the SGCG gene in a patient with limb-girdle muscular dystrophy (LGMDR5; 253700) who had … (more)
McNally et al. (1996) identified an apparently homozygous 1-bp insertion in the SGCG gene in a patient with limb-girdle muscular dystrophy (LGMDR5; 253700) who had onset of symptoms at age 7 years and was wheelchair-bound at age 14. The insertion (87insT) alters the reading frame of amino acid 30 and predicts addition of 29 missense amino acids and a stop codon, ablating the majority of the gamma-sarcoglycan protein. Fanin et al. (2000) identified the same 1-bp insertion in the SGCG gene as the cause of limb-girdle muscular dystrophy in 6 unrelated families from northern Italy. Many patients were homozygotes, although they derived from nonconsanguineous marriages. The authors suggested that the mutant allele is a 'private' mutation in this geographic region. They identified another mutation, an 8-bp duplication in the beta-sarcoglycan gene (600900.0003), which likewise showed linkage disequilibrium with neighboring polymorphisms. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort. | Dalichaouche I | Muscle & nerve | 2017 | PMID: 27759885 |
Revised spectrum of mutations in sarcoglycanopathies. | Trabelsi M | European journal of human genetics : EJHG | 2008 | PMID: 18285821 |
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. | Fanin M | Human mutation | 2000 | PMID: 10874299 |
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. | McNally EM | Human molecular genetics | 1996 | PMID: 8923014 |
Text-mined citations for rs762777463 ...
HelpRecord last updated Mar 17, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.
ClinGen staff contributed the HGVS expression for this variant.