18-63895334-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_002575.3(SERPINB2):c.239G>A(p.Gly80Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00052 in 1,614,046 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002575.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB2 | NM_002575.3 | c.239G>A | p.Gly80Glu | missense_variant | Exon 3 of 8 | ENST00000299502.9 | NP_002566.1 | |
SERPINB2 | NM_001143818.2 | c.239G>A | p.Gly80Glu | missense_variant | Exon 4 of 9 | NP_001137290.1 | ||
SERPINB2 | XM_024451192.2 | c.239G>A | p.Gly80Glu | missense_variant | Exon 3 of 8 | XP_024306960.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000736 AC: 112AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000867 AC: 218AN: 251346Hom.: 0 AF XY: 0.000839 AC XY: 114AN XY: 135850
GnomAD4 exome AF: 0.000497 AC: 727AN: 1461798Hom.: 2 Cov.: 31 AF XY: 0.000514 AC XY: 374AN XY: 727200
GnomAD4 genome AF: 0.000736 AC: 112AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.000940 AC XY: 70AN XY: 74430
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at