chr4-52029715-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000232.5(SGCB):c.392G>T(p.Arg131Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,586 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R131Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000232.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SGCB | NM_000232.5 | c.392G>T | p.Arg131Leu | missense_variant | 3/6 | ENST00000381431.10 | |
SGCB | XM_047416074.1 | c.182G>T | p.Arg61Leu | missense_variant | 2/5 | ||
SGCB | XM_047416075.1 | c.95G>T | p.Arg32Leu | missense_variant | 2/5 | ||
SGCB | XM_047416076.1 | c.95G>T | p.Arg32Leu | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SGCB | ENST00000381431.10 | c.392G>T | p.Arg131Leu | missense_variant | 3/6 | 1 | NM_000232.5 | P1 | |
SGCB | ENST00000506357.5 | c.*174G>T | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 5 | ||||
SGCB | ENST00000514133.1 | c.*187G>T | 3_prime_UTR_variant, NMD_transcript_variant | 3/4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151984Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461602Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727104
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151984Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at