rs6638240
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000298556.8(HPRT1):c.27+2432T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.147 in 112,115 control chromosomes in the GnomAD database, including 1,155 homozygotes. There are 4,676 hemizygotes in GnomAD. 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
ENST00000298556.8 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HPRT1 | NM_000194.3 | c.27+2432T>C | intron_variant | ENST00000298556.8 | NP_000185.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HPRT1 | ENST00000298556.8 | c.27+2432T>C | intron_variant | 1 | NM_000194.3 | ENSP00000298556 | P1 | |||
HPRT1 | ENST00000462974.5 | n.185+2235T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.147 AC: 16492AN: 112058Hom.: 1154 Cov.: 23 AF XY: 0.136 AC XY: 4641AN XY: 34240
GnomAD4 genome AF: 0.147 AC: 16528AN: 112115Hom.: 1155 Cov.: 23 AF XY: 0.136 AC XY: 4676AN XY: 34307
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at