rs3094628
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_024053.2(HCG18):n.803+8819C>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 0.000328 in 152,222 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NR_024053.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HCG18 | NR_024053.2 | n.803+8819C>T | intron_variant, non_coding_transcript_variant | ||||
HCG17 | NR_052012.1 | n.126+8474C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCG17 | ENST00000453558.1 | n.126+8474C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
HCG18 | ENST00000670397.1 | n.142+9686C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000329 AC: 50AN: 152104Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.000328 AC: 50AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000296 AC XY: 22AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at