3-167794703-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001122752.2(SERPINI1):c.760A>T(p.Met254Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,488 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_001122752.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINI1 | NM_001122752.2 | c.760A>T | p.Met254Leu | missense_variant | Exon 5 of 9 | ENST00000446050.7 | NP_001116224.1 | |
SERPINI1 | NM_005025.5 | c.760A>T | p.Met254Leu | missense_variant | Exon 5 of 9 | NP_005016.1 | ||
SERPINI1 | XM_017006618.3 | c.760A>T | p.Met254Leu | missense_variant | Exon 5 of 9 | XP_016862107.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINI1 | ENST00000446050.7 | c.760A>T | p.Met254Leu | missense_variant | Exon 5 of 9 | 1 | NM_001122752.2 | ENSP00000397373.2 | ||
SERPINI1 | ENST00000295777.9 | c.760A>T | p.Met254Leu | missense_variant | Exon 5 of 9 | 1 | ENSP00000295777.5 | |||
SERPINI1 | ENST00000472747.2 | c.*24A>T | downstream_gene_variant | 3 | ENSP00000420561.2 | |||||
ENSG00000287319 | ENST00000661269.1 | n.*244T>A | downstream_gene_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461488Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727050
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.