chr16-2715849-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031948.5(PRSS27):c.105G>A(p.Met35Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,447,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031948.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS27 | NM_031948.5 | c.105G>A | p.Met35Ile | missense_variant | 3/6 | ENST00000302641.8 | |
PRSS27 | NM_001318395.2 | c.-71+651G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS27 | ENST00000302641.8 | c.105G>A | p.Met35Ile | missense_variant | 3/6 | 1 | NM_031948.5 | P1 | |
PRSS27 | ENST00000565903.5 | c.73+651G>A | intron_variant, NMD_transcript_variant | 1 | |||||
PRSS27 | ENST00000566492.1 | n.2676G>A | non_coding_transcript_exon_variant | 1/1 | |||||
PRSS27 | ENST00000562249.1 | c.73+651G>A | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 234036Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 128388
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1447006Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 718752
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 28, 2023 | The c.105G>A (p.M35I) alteration is located in exon 3 (coding exon 3) of the PRSS27 gene. This alteration results from a G to A substitution at nucleotide position 105, causing the methionine (M) at amino acid position 35 to be replaced by an isoleucine (I). 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