rs9788730
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662551.1(ENSG00000259754):n.251+26442A>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 0.266 in 152,050 control chromosomes in the GnomAD database, including 9,868 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.205+26442A>C | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_001751518.3 | n.145+26442A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000662551.1 | n.251+26442A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000560900.1 | n.258+26442A>C | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000665188.1 | n.220+21058A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.265 AC: 40320AN: 151930Hom.: 9827 Cov.: 33
GnomAD4 genome ? AF: 0.266 AC: 40429AN: 152050Hom.: 9868 Cov.: 33 AF XY: 0.265 AC XY: 19678AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at