rs7972859
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000509470.2(ENSG00000248636):n.418+1308G>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 0.15 in 151,654 control chromosomes in the GnomAD database, including 2,138 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 |
---|---|---|---|---|---|---|---|
LOC105370027 | XR_007063484.1 | n.162+1308G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000509470.2 | n.418+1308G>A | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000537366.5 | n.235+1308G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000535511.5 | n.157+1308G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000665601.1 | n.159+1308G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.150 AC: 22783AN: 151536Hom.: 2136 Cov.: 32
GnomAD4 genome ? AF: 0.150 AC: 22791AN: 151654Hom.: 2138 Cov.: 32 AF XY: 0.149 AC XY: 11045AN XY: 74062
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at