rs6795506
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000630178.2(HRG-AS1):n.239-32212T>C 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 0.0203 in 152,346 control chromosomes in the GnomAD database, including 90 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
ENST00000630178.2 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HRG-AS1 | ENST00000630178.2 | n.239-32212T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
HRG-AS1 | ENST00000625386.2 | n.388+29776T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
HRG-AS1 | ENST00000628505.2 | n.390-5869T>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0203 AC: 3093AN: 152228Hom.: 90 Cov.: 32
GnomAD4 genome ? AF: 0.0203 AC: 3098AN: 152346Hom.: 90 Cov.: 32 AF XY: 0.0199 AC XY: 1486AN XY: 74502
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at