14-94496428-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001382267.1(SERPINA12):c.850G>A(p.Glu284Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000229 in 1,614,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001382267.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINA12 | NM_001382267.1 | c.850G>A | p.Glu284Lys | missense_variant | Exon 3 of 5 | ENST00000677451.1 | NP_001369196.1 | |
SERPINA12 | NM_001304461.2 | c.850G>A | p.Glu284Lys | missense_variant | Exon 3 of 5 | NP_001291390.1 | ||
SERPINA12 | NM_173850.4 | c.850G>A | p.Glu284Lys | missense_variant | Exon 4 of 6 | NP_776249.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINA12 | ENST00000677451.1 | c.850G>A | p.Glu284Lys | missense_variant | Exon 3 of 5 | NM_001382267.1 | ENSP00000503935.1 | |||
SERPINA12 | ENST00000341228.2 | c.850G>A | p.Glu284Lys | missense_variant | Exon 4 of 6 | 1 | ENSP00000342109.2 | |||
SERPINA12 | ENST00000556881.5 | c.850G>A | p.Glu284Lys | missense_variant | Exon 3 of 5 | 1 | ENSP00000451738.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251484Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135914
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461894Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727248
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.850G>A (p.E284K) alteration is located in exon 4 (coding exon 2) of the SERPINA12 gene. This alteration results from a G to A substitution at nucleotide position 850, causing the glutamic acid (E) at amino acid position 284 to be replaced by a lysine (K). 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