13-23187743-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_000231.3(SGCG):​c.-1+6668C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 152,142 control chromosomes in the GnomAD database, including 3,015 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 ( 3015 hom., cov: 33)

Consequence

SGCG
NM_000231.3 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.290
Variant links:
Genes affected
SGCG (HGNC:10809): (sarcoglycan gamma) This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.294 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SGCGNM_000231.3 linkc.-1+6668C>T intron_variant Intron 1 of 7 ENST00000218867.4 NP_000222.2 Q13326

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SGCGENST00000218867.4 linkc.-1+6668C>T intron_variant Intron 1 of 7 1 NM_000231.3 ENSP00000218867.3 Q13326

Frequencies

GnomAD3 genomes
AF:
0.192
AC:
29213
AN:
152024
Hom.:
3013
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.256
Gnomad AMI
AF:
0.0976
Gnomad AMR
AF:
0.140
Gnomad ASJ
AF:
0.161
Gnomad EAS
AF:
0.307
Gnomad SAS
AF:
0.197
Gnomad FIN
AF:
0.175
Gnomad MID
AF:
0.117
Gnomad NFE
AF:
0.162
Gnomad OTH
AF:
0.176
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.192
AC:
29239
AN:
152142
Hom.:
3015
Cov.:
33
AF XY:
0.192
AC XY:
14261
AN XY:
74382
show subpopulations
Gnomad4 AFR
AF:
0.256
Gnomad4 AMR
AF:
0.140
Gnomad4 ASJ
AF:
0.161
Gnomad4 EAS
AF:
0.306
Gnomad4 SAS
AF:
0.198
Gnomad4 FIN
AF:
0.175
Gnomad4 NFE
AF:
0.162
Gnomad4 OTH
AF:
0.174
Alfa
AF:
0.166
Hom.:
4429
Bravo
AF:
0.190
Asia WGS
AF:
0.232
AC:
806
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.95
CADD
Benign
0.81
DANN
Benign
0.43

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs3794368; hg19: chr13-23761882; API