NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 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:: RCV003480755.1

Allele description [Variation Report for NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)]

NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)

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.409G>C (p.Glu137Gln)

Other names:

p.Glu137Gln

HGVS:

NC_000017.11:g.50168397G>C
NG_008889.1:g.7393G>C
NM_000023.4:c.409G>CMANE SELECT
NM_001135697.3:c.409G>C
NP_000014.1:p.Glu137Gln
NP_001129169.1:p.Glu137Gln
LRG_203t1:c.409G>C
LRG_203:g.7393G>C
NC_000017.10:g.48245758G>C
NM_000023.2:c.409G>C
NM_000023.3:c.409G>C
NR_135553.2:n.445G>C

Protein change:

E137Q

Links:

dbSNP: rs372210292

NCBI 1000 Genomes Browser:

rs372210292

Molecular consequence:

NM_000023.4:c.409G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001135697.3:c.409G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_135553.2:n.445G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004224223	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 11, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 28403181, 30703231, 30764848, 31847883, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004224223

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 11, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.

Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu P, Lv H, Zhang W, Yuan Y, Wang Z.

PLoS One. 2017;12(4):e0175343. doi: 10.1371/journal.pone.0175343.

PubMed [citation]

PMID:: 28403181
PMCID:: PMC5389788

[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].

Ding L, Tang S, Li H, Xu X, Luan Z, Zhang Q, Lyu J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):136-139. doi: 10.3760/cma.j.issn.1003-9406.2019.02.010. Chinese.

PubMed [citation]

PMID:: 30703231

See all PubMed Citations (5)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224223.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

PP3, PM2, PM3, PM5

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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