18-63897124-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002575.3(SERPINB2):c.322C>T(p.Arg108Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000632 in 1,613,000 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002575.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB2 | NM_002575.3 | c.322C>T | p.Arg108Cys | missense_variant | Exon 4 of 8 | ENST00000299502.9 | NP_002566.1 | |
SERPINB2 | NM_001143818.2 | c.322C>T | p.Arg108Cys | missense_variant | Exon 5 of 9 | NP_001137290.1 | ||
SERPINB2 | XM_024451192.2 | c.322C>T | p.Arg108Cys | missense_variant | Exon 4 of 8 | XP_024306960.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250676Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135460
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1460842Hom.: 0 Cov.: 30 AF XY: 0.0000619 AC XY: 45AN XY: 726676
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.322C>T (p.R108C) alteration is located in exon 5 (coding exon 3) of the SERPINB2 gene. This alteration results from a C to T substitution at nucleotide position 322, causing the arginine (R) at amino acid position 108 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at