18-63655686-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006919.3(SERPINB3):c.1144C>T(p.Leu382Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000236 in 1,612,804 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006919.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB3 | ENST00000283752.10 | c.1144C>T | p.Leu382Phe | missense_variant | Exon 8 of 8 | 1 | NM_006919.3 | ENSP00000283752.5 | ||
SERPINB3 | ENST00000332821.8 | c.988C>T | p.Leu330Phe | missense_variant | Exon 7 of 7 | 1 | ENSP00000329498.8 | |||
SERPINB11 | ENST00000489748 | c.-306G>A | 5_prime_UTR_variant | Exon 2 of 7 | 2 | ENSP00000480275.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250382Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135304
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1460690Hom.: 0 Cov.: 31 AF XY: 0.0000262 AC XY: 19AN XY: 726550
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1144C>T (p.L382F) alteration is located in exon 8 (coding exon 7) of the SERPINB3 gene. This alteration results from a C to T substitution at nucleotide position 1144, causing the leucine (L) at amino acid position 382 to be replaced by a phenylalanine (F). 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