rs144743676
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 3P and 3B. PM2PP3BP4_ModerateBS1_Supporting
The ENST00000381431.10(SGCB):c.151C>T(p.Arg51Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00034 in 1,613,552 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R51H) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000381431.10 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SGCB | NM_000232.5 | c.151C>T | p.Arg51Cys | missense_variant | 2/6 | ENST00000381431.10 | NP_000223.1 | |
SGCB | XM_047416074.1 | c.34-3660C>T | intron_variant | XP_047272030.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SGCB | ENST00000381431.10 | c.151C>T | p.Arg51Cys | missense_variant | 2/6 | 1 | NM_000232.5 | ENSP00000370839 | P1 | |
SGCB | ENST00000506357.5 | c.139C>T | p.Arg47Cys | missense_variant, NMD_transcript_variant | 2/5 | 5 | ENSP00000421235 | |||
SGCB | ENST00000514133.1 | c.118C>T | p.Arg40Cys | missense_variant, NMD_transcript_variant | 1/4 | 5 | ENSP00000425818 |
Frequencies
GnomAD3 genomes AF: 0.000302 AC: 46AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000171 AC: 43AN: 251468Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135904
GnomAD4 exome AF: 0.000344 AC: 502AN: 1461344Hom.: 0 Cov.: 31 AF XY: 0.000358 AC XY: 260AN XY: 727020
GnomAD4 genome AF: 0.000302 AC: 46AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.000296 AC XY: 22AN XY: 74412
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2E Uncertain:4
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Oct 02, 2023 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Dec 31, 2019 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 23, 2022 | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 51 of the SGCB protein (p.Arg51Cys). This variant is present in population databases (rs144743676, gnomAD 0.1%). 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: 92659). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 11, 2021 | - - |
not provided Uncertain:3
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jan 11, 2017 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2018 | - - |
Uncertain significance, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at