GeneBe

ENST00000523024.2:n.343+2914G>T

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000523024.2(PRSS51):​n.343+1965T>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

GnomAD MNV: 𝑓 N/A
Genomes: 𝑓 N/A ( N/A hom., cov: )
Exomes 𝑓: N/A ( N/A hom. )

Consequence

PRSS51
ENST00000523024.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned

Publications

No publications found
Variant links:
Genes affected
PRSS51 (HGNC:37321): (serine protease 51) Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
PRSS51XM_047422509.1 linkc.*579T>. 3_prime_UTR_variant Exon 5 of 5 XP_047278465.1
PRSS51XM_047422510.1 linkc.*579T>. 3_prime_UTR_variant Exon 5 of 5 XP_047278466.1
PRSS51XR_007060817.1 linkn.734+888T>. intron_variant Intron 4 of 5

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
PRSS51ENST00000523024.2 linkn.343+1965T>. intron_variant Intron 3 of 4 1 ENSP00000518528.1
PRSS51ENST00000647010.1 linkc.*579T>. 3_prime_UTR_variant Exon 6 of 6 ENSP00000496218.1 A0A2R8YGP0
PRSS51ENST00000636217.1 linkc.*638T>. 3_prime_UTR_variant Exon 6 of 6 5 ENSP00000490515.1 A0A1B0GVH4

Frequencies

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

hg19: chr8-10353257; API