NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) AND Autosomal recessive limb-girdle muscular dystrophy type 2E

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 6, 2022
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:: RCV001240083.5

Allele description [Variation Report for NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)]

NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)

Genes:

LOC129992585:ATAC-STARR-seq lymphoblastoid silent region 15421 [Gene]
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)

HGVS:

NC_000004.12:g.52038239CGC[6]
NG_008891.1:g.5072GGC[6]
NM_000232.5:c.12GGC[6]MANE SELECT
NP_000223.1:p.Ala8_Ala9dup
LRG_204:g.5072GGC[6]
NC_000004.11:g.52904402_52904403insGCCGCC
NC_000004.11:g.52904405CGC[6]
NM_000232.4:c.18_23dup
NM_000232.5:c.18_23dupMANE SELECT

Links:

dbSNP: rs768838951

NCBI 1000 Genomes Browser:

rs768838951

Molecular consequence:

NM_000232.5:c.12GGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMDR4)
Synonyms:: Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; Beta-sarcoglycan limb-girdle muscular dystrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011423; MedGen: C1858593; Orphanet: 119; OMIM: 604286

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001413005	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 6, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002082999	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 17, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001413005

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 6, 2022)

germline

clinical testing

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

SCV002082999

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 17, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001413005.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.18_23dup, results in the insertion of 2 amino acid(s) of the SGCB protein (p.Ala8_Ala9dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 283457). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002082999.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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