chr11-86807809-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_007173.6(PRSS23):c.166G>A(p.Glu56Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00557 in 1,614,100 control chromosomes in the GnomAD database, including 37 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_007173.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS23 | NM_007173.6 | c.166G>A | p.Glu56Lys | missense_variant | 2/2 | ENST00000280258.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS23 | ENST00000280258.6 | c.166G>A | p.Glu56Lys | missense_variant | 2/2 | 1 | NM_007173.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00395 AC: 601AN: 152108Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00433 AC: 1089AN: 251446Hom.: 4 AF XY: 0.00441 AC XY: 599AN XY: 135896
GnomAD4 exome AF: 0.00573 AC: 8383AN: 1461874Hom.: 34 Cov.: 31 AF XY: 0.00555 AC XY: 4037AN XY: 727238
GnomAD4 genome ? AF: 0.00395 AC: 601AN: 152226Hom.: 3 Cov.: 32 AF XY: 0.00366 AC XY: 272AN XY: 74404
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Aug 01, 2023 | PRSS23: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at