rs1867991
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006229.4(PNLIPRP1):c.205-23A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.703 in 1,570,664 control chromosomes in the GnomAD database, including 389,833 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_006229.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PNLIPRP1 | NM_006229.4 | c.205-23A>C | intron_variant | ENST00000358834.9 | |||
PNLIPRP1 | NM_001303135.1 | c.205-23A>C | intron_variant | ||||
PNLIPRP1 | XM_047425364.1 | c.205-23A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PNLIPRP1 | ENST00000358834.9 | c.205-23A>C | intron_variant | 1 | NM_006229.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.675 AC: 102489AN: 151928Hom.: 34817 Cov.: 32
GnomAD3 exomes AF: 0.697 AC: 158080AN: 226742Hom.: 55485 AF XY: 0.699 AC XY: 85052AN XY: 121726
GnomAD4 exome AF: 0.706 AC: 1002231AN: 1418618Hom.: 354990 Cov.: 36 AF XY: 0.707 AC XY: 494669AN XY: 700008
GnomAD4 genome ? AF: 0.675 AC: 102567AN: 152046Hom.: 34843 Cov.: 32 AF XY: 0.675 AC XY: 50131AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at