chr17-67491905-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012417.4(PITPNC1):c.49-40897G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,764 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012417.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PITPNC1 | NM_012417.4 | c.49-40897G>T | intron_variant | ENST00000581322.6 | |||
PITPNC1 | NM_181671.3 | c.49-40897G>T | intron_variant | ||||
PITPNC1 | XM_047435746.1 | c.-21-40897G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PITPNC1 | ENST00000581322.6 | c.49-40897G>T | intron_variant | 1 | NM_012417.4 | ||||
PITPNC1 | ENST00000580974.6 | c.49-40897G>T | intron_variant | 1 | P1 | ||||
PITPNC1 | ENST00000584471.5 | c.-21-40897G>T | intron_variant | 5 | |||||
PITPNC1 | ENST00000584554.1 | c.-22+32113G>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151642Hom.: 0 Cov.: 30
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151764Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74146
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.