18-63655750-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006919.3(SERPINB3):āc.1080T>Cā(p.Asn360Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,754 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006919.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB3 | ENST00000283752.10 | c.1080T>C | p.Asn360Asn | synonymous_variant | Exon 8 of 8 | 1 | NM_006919.3 | ENSP00000283752.5 | ||
SERPINB3 | ENST00000332821.8 | c.924T>C | p.Asn308Asn | synonymous_variant | Exon 7 of 7 | 1 | ENSP00000329498.8 | |||
SERPINB11 | ENST00000489748 | c.-242A>G | 5_prime_UTR_variant | Exon 2 of 7 | 2 | ENSP00000480275.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461754Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727184
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.