19-7630559-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001171155.2(PET100):c.28-14C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000145 in 1,380,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001171155.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PET100 | NM_001171155.2 | c.28-14C>G | intron_variant | Intron 1 of 3 | ENST00000594797.6 | NP_001164626.1 | ||
STXBP2 | NM_001414484.1 | c.-170-14C>G | intron_variant | Intron 1 of 20 | NP_001401413.1 | |||
PET100 | NR_033242.2 | n.69-14C>G | intron_variant | Intron 1 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PET100 | ENST00000594797.6 | c.28-14C>G | intron_variant | Intron 1 of 3 | 1 | NM_001171155.2 | ENSP00000470539.1 | |||
ENSG00000268400 | ENST00000698368.1 | n.28-14C>G | intron_variant | Intron 1 of 19 | ENSP00000513686.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000145 AC: 2AN: 1380380Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 681446
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.