14-94614582-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_001085.5(SERPINA3):c.141C>T(p.Leu47Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000731 in 1,614,148 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001085.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINA3 | NM_001085.5 | c.141C>T | p.Leu47Leu | synonymous_variant | Exon 2 of 5 | ENST00000393078.5 | NP_001076.2 | |
SERPINA3 | NM_001384672.1 | c.141C>T | p.Leu47Leu | synonymous_variant | Exon 2 of 5 | NP_001371601.1 | ||
SERPINA3 | NM_001384673.1 | c.141C>T | p.Leu47Leu | synonymous_variant | Exon 3 of 6 | NP_001371602.1 | ||
SERPINA3 | NM_001384674.1 | c.141C>T | p.Leu47Leu | synonymous_variant | Exon 3 of 6 | NP_001371603.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINA3 | ENST00000393078.5 | c.141C>T | p.Leu47Leu | synonymous_variant | Exon 2 of 5 | 1 | NM_001085.5 | ENSP00000376793.3 | ||
ENSG00000273259 | ENST00000553947.1 | n.*967C>T | non_coding_transcript_exon_variant | Exon 5 of 8 | 2 | ENSP00000452367.2 | ||||
ENSG00000273259 | ENST00000553947.1 | n.*967C>T | 3_prime_UTR_variant | Exon 5 of 8 | 2 | ENSP00000452367.2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251298Hom.: 1 AF XY: 0.000184 AC XY: 25AN XY: 135804
GnomAD4 exome AF: 0.0000752 AC: 110AN: 1461890Hom.: 2 Cov.: 35 AF XY: 0.000102 AC XY: 74AN XY: 727244
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74436
ClinVar
Submissions by phenotype
SERPINA3-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at