18-63556232-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001307928.2(SERPINB12):c.73C>T(p.His25Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000229 in 1,613,996 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001307928.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB12 | ENST00000382768.2 | c.73C>T | p.His25Tyr | missense_variant | Exon 2 of 8 | 1 | NM_001307928.2 | ENSP00000372218.1 | ||
SERPINB12 | ENST00000269491.6 | c.73C>T | p.His25Tyr | missense_variant | Exon 2 of 8 | 1 | ENSP00000269491.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251348Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135832
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461786Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 727214
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.73C>T (p.H25Y) alteration is located in exon 1 (coding exon 1) of the SERPINB12 gene. This alteration results from a C to T substitution at nucleotide position 73, causing the histidine (H) at amino acid position 25 to be replaced by a tyrosine (Y). 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