chr9-33750847-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000429677.8(PRSS3):āc.14G>Cā(p.Gly5Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.136 in 1,380,954 control chromosomes in the GnomAD database, including 15,434 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
ENST00000429677.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBE2R2-AS1 | NR_170204.1 | n.559-12431C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBE2R2-AS1 | ENST00000705030.1 | n.644-12431C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.188 AC: 28474AN: 151856Hom.: 3699 Cov.: 31
GnomAD3 exomes AF: 0.110 AC: 1902AN: 17262Hom.: 169 AF XY: 0.115 AC XY: 1095AN XY: 9542
GnomAD4 exome AF: 0.130 AC: 159395AN: 1228978Hom.: 11719 Cov.: 34 AF XY: 0.130 AC XY: 76996AN XY: 592968
GnomAD4 genome AF: 0.188 AC: 28537AN: 151976Hom.: 3715 Cov.: 31 AF XY: 0.187 AC XY: 13887AN XY: 74296
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 15, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at