chr13-18955504-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000444553.5(PHF2P2):n.2099+33C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.409 in 1,255,188 control chromosomes in the GnomAD database, including 109,471 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.
Frequency
Consequence
ENST00000444553.5 intron, non_coding_transcript
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PHF2P2 | ENST00000444553.5 | n.2099+33C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.446 AC: 67762AN: 151814Hom.: 15937 Cov.: 32
GnomAD4 exome AF: 0.403 AC: 445049AN: 1103256Hom.: 93514 Cov.: 14 AF XY: 0.397 AC XY: 222543AN XY: 561234
GnomAD4 genome AF: 0.447 AC: 67838AN: 151932Hom.: 15957 Cov.: 32 AF XY: 0.446 AC XY: 33124AN XY: 74244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at