chr15-75469787-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_002833.4(PTPN9):c.1567+5C>T variant causes a splice donor 5th base, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00485 in 1,612,210 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002833.4 splice_donor_5th_base, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTPN9 | NM_002833.4 | c.1567+5C>T | splice_donor_5th_base_variant, intron_variant | ENST00000618819.5 | NP_002824.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTPN9 | ENST00000618819.5 | c.1567+5C>T | splice_donor_5th_base_variant, intron_variant | 1 | NM_002833.4 | ENSP00000482732 | P1 | |||
PTPN9 | ENST00000568108.1 | n.438+5C>T | splice_donor_5th_base_variant, intron_variant, non_coding_transcript_variant | 2 | ||||||
PTPN9 | ENST00000563835.1 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00332 AC: 506AN: 152212Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00335 AC: 841AN: 250990Hom.: 5 AF XY: 0.00346 AC XY: 470AN XY: 135658
GnomAD4 exome AF: 0.00501 AC: 7310AN: 1459880Hom.: 19 Cov.: 31 AF XY: 0.00482 AC XY: 3500AN XY: 726248
GnomAD4 genome AF: 0.00332 AC: 506AN: 152330Hom.: 1 Cov.: 32 AF XY: 0.00305 AC XY: 227AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2023 | PTPN9: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at