18-63897119-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002575.3(SERPINB2):c.317C>T(p.Ser106Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002575.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB2 | NM_002575.3 | c.317C>T | p.Ser106Phe | missense_variant | Exon 4 of 8 | ENST00000299502.9 | NP_002566.1 | |
SERPINB2 | NM_001143818.2 | c.317C>T | p.Ser106Phe | missense_variant | Exon 5 of 9 | NP_001137290.1 | ||
SERPINB2 | XM_024451192.2 | c.317C>T | p.Ser106Phe | missense_variant | Exon 4 of 8 | XP_024306960.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250746Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135520
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460856Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726720
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at