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NM_000231.3(SGCG):c.*10G>A AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:
Benign (2 submissions)
Last evaluated:
Oct 11, 2023
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:
RCV001274913.9

Allele description [Variation Report for NM_000231.3(SGCG):c.*10G>A]

NM_000231.3(SGCG):c.*10G>A

Gene:
SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_000231.3(SGCG):c.*10G>A
HGVS:
  • NC_000013.11:g.23324551G>A
  • NG_008759.1:g.148631G>A
  • NM_000231.3:c.*10G>AMANE SELECT
  • NM_001378244.1:c.*10G>A
  • NM_001378245.1:c.*10G>A
  • NM_001378246.1:c.*10G>A
  • LRG_207t1:c.*10G>A
  • LRG_207:g.148631G>A
  • NC_000013.10:g.23898690G>A
  • NM_000231.2:c.*10G>A
Links:
dbSNP: rs139369964
NCBI 1000 Genomes Browser:
rs139369964
Molecular consequence:
  • NM_000231.3:c.*10G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378244.1:c.*10G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378245.1:c.*10G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378246.1:c.*10G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
Synonyms:
Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Muscular dystrophy, Duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009677; MedGen: C0410173; Orphanet: 353; OMIM: 253700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001459466Natera, Inc.
no assertion criteria provided
Benign
(Sep 16, 2020) 		germlineclinical testing

SCV002049053ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Oct 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001459466.1

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002049053.2

#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: Jun 29, 2024