rs7649861
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007096124.1(LOC105374140):n.20164-16228G>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 0.634 in 152,008 control chromosomes in the GnomAD database, including 31,297 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
XR_007096124.1 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 |
---|---|---|---|---|---|---|---|
LOC105374140 | XR_007096124.1 | n.20164-16228G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374140 | XR_001740941.2 | n.20091-16228G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374140 | XR_001740943.3 | n.163-16228G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374140 | XR_924558.4 | n.254-16228G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.634 AC: 96357AN: 151890Hom.: 31272 Cov.: 32
GnomAD4 genome ? AF: 0.634 AC: 96430AN: 152008Hom.: 31297 Cov.: 32 AF XY: 0.630 AC XY: 46820AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at