rs7614670
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000471537.3(ENSG00000273328):n.143-7632G>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 0.367 in 152,082 control chromosomes in the GnomAD database, including 10,919 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 | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000471537.3 | n.143-7632G>A | intron_variant, non_coding_transcript_variant | 1 | ||||||
ACKR2 | ENST00000460855.5 | n.472-7632G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
ENST00000496604.5 | n.387-7632G>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
ACKR2 | ENST00000498111.5 | n.547-7632G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.367 AC: 55770AN: 151962Hom.: 10904 Cov.: 32
GnomAD4 genome AF: 0.367 AC: 55826AN: 152082Hom.: 10919 Cov.: 32 AF XY: 0.372 AC XY: 27658AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at