rs45552332
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662551.1(ENSG00000259754):n.189-74186G>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 0.0104 in 152,138 control chromosomes in the GnomAD database, including 75 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 |
---|---|---|---|---|---|---|---|
LOC124900354 | XR_001751516.3 | n.142+34019G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_001751517.2 | n.142+34019G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_001751518.3 | n.82+3161G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_007064618.1 | n.143-30833G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000662551.1 | n.189-74186G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000560900.1 | n.195+34019G>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000664705.1 | n.189-74186G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000665188.1 | n.69-74186G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0103 AC: 1570AN: 152020Hom.: 73 Cov.: 32
GnomAD4 genome ? AF: 0.0104 AC: 1575AN: 152138Hom.: 75 Cov.: 32 AF XY: 0.0120 AC XY: 890AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at