rs6638241
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000194.3(HPRT1):c.27+5261C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 112,024 control chromosomes in the GnomAD database, including 828 homozygotes. There are 4,215 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
NM_000194.3 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 | UniProt |
---|---|---|---|---|---|---|---|
HPRT1 | NM_000194.3 | c.27+5261C>T | intron_variant | ENST00000298556.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HPRT1 | ENST00000298556.8 | c.27+5261C>T | intron_variant | 1 | NM_000194.3 | P1 | |||
HPRT1 | ENST00000462974.5 | n.185+5064C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.131 AC: 14635AN: 111971Hom.: 826 Cov.: 23 AF XY: 0.122 AC XY: 4185AN XY: 34165
GnomAD4 genome ? AF: 0.131 AC: 14666AN: 112024Hom.: 828 Cov.: 23 AF XY: 0.123 AC XY: 4215AN XY: 34228
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at