5-156186481-A-G

Position:

• chr5-156186481-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000517913.5(SGCD):​c.-44+62462A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.185 in 152,152 control chromosomes in the GnomAD database, including 3,631 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.19 (3631 hom., cov: 31)
• Consequence: SGCD ENST00000517913.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.450

Genes affected

SGCD (HGNC:10807): (sarcoglycan delta) The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.578 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SGCD	XM_017009724.2	c.-44+62462A>G		intron_variant			XP_016865213.1
SGCD	XM_047417518.1	c.-44+62462A>G		intron_variant			XP_047273474.1
SGCD	XM_047417519.1	c.-44+62462A>G		intron_variant			XP_047273475.1
SGCD	XM_047417520.1	c.-1+62462A>G		intron_variant			XP_047273476.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SGCD	ENST00000517913.5	c.-44+62462A>G		intron_variant		5		ENSP00000429378.1

Frequencies

GnomAD3 genomes AF: 0.186 AC: 28209 AN: 152034 Hom.: 3636 Cov.: 31

Gnomad AFR AF: 0.0415

Gnomad AMI AF: 0.305

Gnomad AMR AF: 0.169

Gnomad ASJ AF: 0.267

Gnomad EAS AF: 0.595

Gnomad SAS AF: 0.316

Gnomad FIN AF: 0.221

Gnomad MID AF: 0.228

Gnomad NFE AF: 0.225

Gnomad OTH AF: 0.203

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.185 AC: 28192 AN: 152152 Hom.: 3631 Cov.: 31 AF XY: 0.190 AC XY: 14101 AN XY: 74384

Gnomad4 AFR AF: 0.0414

Gnomad4 AMR AF: 0.168

Gnomad4 ASJ AF: 0.267

Gnomad4 EAS AF: 0.596

Gnomad4 SAS AF: 0.315

Gnomad4 FIN AF: 0.221

Gnomad4 NFE AF: 0.225

Gnomad4 OTH AF: 0.203

Alfa AF: 0.218 Hom.: 1788

Bravo AF: 0.178

Asia WGS AF: 0.399 AC: 1387 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.88
DANN	Benign	0.69

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1835919; hg19: chr5-155613491;