rs157573
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000471826.1(P4HA2):n.312-1257T>G 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 0.813 in 152,186 control chromosomes in the GnomAD database, including 51,244 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
ENST00000471826.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
P4HA2 | ENST00000471826.1 | n.312-1257T>G | intron_variant, non_coding_transcript_variant | 1 | |||||
P4HA2 | ENST00000431054.5 | c.78+16433T>G | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.813 AC: 123564AN: 152066Hom.: 51188 Cov.: 32
GnomAD4 genome ? AF: 0.813 AC: 123672AN: 152186Hom.: 51244 Cov.: 32 AF XY: 0.800 AC XY: 59551AN XY: 74402
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at