rs951005
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664167.1(ENSG00000288583):n.87-30355G>A 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 0.781 in 152,128 control chromosomes in the GnomAD database, including 47,046 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
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PHF24 | XM_047423102.1 | c.133+40646G>A | intron_variant | XP_047279058.1 | ||||
PHF24 | XM_047423103.1 | c.70+40646G>A | intron_variant | XP_047279059.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000664167.1 | n.87-30355G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.781 AC: 118749AN: 152010Hom.: 47030 Cov.: 32
GnomAD4 genome AF: 0.781 AC: 118805AN: 152128Hom.: 47046 Cov.: 32 AF XY: 0.782 AC XY: 58182AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at