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NM_000231.3(SGCG):c.525del (p.Phe175fs) AND SGCG-related congenital myopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV004586589.1

Allele description [Variation Report for NM_000231.3(SGCG):c.525del (p.Phe175fs)]

NM_000231.3(SGCG):c.525del (p.Phe175fs)

Gene:
SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_000231.3(SGCG):c.525del (p.Phe175fs)
HGVS:
  • NC_000013.10:g.23869569del
  • NC_000013.11:g.23295434del
  • NG_008759.1:g.119514del
  • NM_000231.3:c.525delMANE SELECT
  • NM_001378244.1:c.579del
  • NM_001378245.1:c.525del
  • NM_001378246.1:c.525del
  • NP_000222.2:p.Phe175fs
  • NP_001365173.1:p.Phe193fs
  • NP_001365174.1:p.Phe175fs
  • NP_001365175.1:p.Phe175fs
  • LRG_207:g.119514del
  • NC_000013.10:g.23869569del
  • NC_000013.10:g.23869573del
  • NC_000013.10:g.23869573delT
  • NM_000231.2:c.525delT
  • p.Phe175LeufsTer20
  • p.Phe175LeufsX20
Protein change:
F193fs
Links:
LOVD 3: SGCG_000001; OMIM: 608896.0001; dbSNP: rs786204786
NCBI 1000 Genomes Browser:
rs786204786
Molecular consequence:
  • NM_000231.3:c.525del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378244.1:c.579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378245.1:c.525del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378246.1:c.525del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
SGCG-related congenital myopathy
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005038501Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 1, 2024)
biparentalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot providednot providednot providedresearch

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

Details of each submission

From Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire, SCV005038501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

PVS1+PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024