NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) AND Autosomal recessive limb-girdle muscular dystrophy type 2D

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 14, 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:: RCV000648062.9

Allele description [Variation Report for NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)]

NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)

Gene:

SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)

HGVS:

NC_000017.11:g.50167379G>A
NG_008889.1:g.6375G>A
NM_000023.4:c.49G>AMANE SELECT
NM_001135697.3:c.49G>A
NP_000014.1:p.Gly17Arg
NP_001129169.1:p.Gly17Arg
LRG_203t1:c.49G>A
LRG_203:g.6375G>A
NC_000017.10:g.48244740G>A
NM_000023.2:c.49G>A
NM_000023.3:c.49G>A
NR_135553.2:n.85G>A

Protein change:

G17R

Links:

dbSNP: rs573792379

NCBI 1000 Genomes Browser:

rs573792379

Molecular consequence:

NM_000023.4:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001135697.3:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_135553.2:n.85G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMDR3)
Synonyms:: ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens perilipin 4 (PLIN4), transcript variant X1, mRNA
PREDICTED: Homo sapiens perilipin 4 (PLIN4), transcript variant X1, mRNA
gi|2217322690|ref|XM_017027192.2|

Nucleotide
Rattus norvegicus mRNA for sperm protein (sp10 gene)
Rattus norvegicus mRNA for sperm protein (sp10 gene)
gi|5305192|emb|AJ243484.1|

Nucleotide
Heparin Lyase
Heparin Lyase
An enzyme of the isomerase class that catalyzes the eliminative cleavage of polysaccharides containing 1,4-linked D-glucuronate or L-iduronate residues and 1,4-alpha-linked 2-...<br/>Year introduced: 1998

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000769872	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001463221	Natera, Inc.	no assertion criteria provided	Uncertain significance (Nov 11, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000769872

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 14, 2023)

germline

clinical testing

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

SCV001463221

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Nov 11, 2019)

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, SCV000769872.5

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

#	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., SCV001463221.1

#	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

ClinVar

Relating variation to medicine