18-63655815-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006919.3(SERPINB3):c.1015G>C(p.Glu339Gln) 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 1,461,726 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.1015G>C | p.Glu339Gln | missense_variant | Exon 8 of 8 | 1 | NM_006919.3 | ENSP00000283752.5 | ||
SERPINB3 | ENST00000332821.8 | c.859G>C | p.Glu287Gln | missense_variant | Exon 7 of 7 | 1 | ENSP00000329498.8 | |||
SERPINB11 | ENST00000489748 | c.-177C>G | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 7 | 2 | ENSP00000480275.1 | ||||
SERPINB11 | ENST00000489748 | c.-177C>G | 5_prime_UTR_variant | Exon 2 of 7 | 2 | ENSP00000480275.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251062Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135682
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461726Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727164
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1015G>C (p.E339Q) alteration is located in exon 8 (coding exon 7) of the SERPINB3 gene. This alteration results from a G to C substitution at nucleotide position 1015, causing the glutamic acid (E) at amino acid position 339 to be replaced by a glutamine (Q). 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