rs2032366
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000587754.1(ENSG00000267279):n.500+9G>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 0.624 in 151,854 control chromosomes in the GnomAD database, including 29,815 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 |
---|---|---|---|---|---|---|---|
LOC124904314 | XR_007066395.1 | n.460+5798G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124904314 | XR_007066394.1 | n.1814+5798G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000587754.1 | n.500+9G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000590968.1 | n.318-6515G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000590199.5 | n.275-6515G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.624 AC: 94726AN: 151732Hom.: 29787 Cov.: 30
GnomAD4 exome AF: 1.00 AC: 4AN: 4Hom.: 2 Cov.: 0 AF XY: 1.00 AC XY: 2AN XY: 2
GnomAD4 genome ? AF: 0.624 AC: 94806AN: 151850Hom.: 29813 Cov.: 30 AF XY: 0.620 AC XY: 45965AN XY: 74194
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at