rs1497546
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000508616.1(ENSG00000251088):n.149+3674G>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 0.0863 in 152,184 control chromosomes in the GnomAD database, including 1,263 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000508616.1 | n.149+3674G>A | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000692007.1 | n.127+9411C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000688712.1 | n.93+9411C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000689242.1 | n.93+9411C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0862 AC: 13104AN: 152066Hom.: 1262 Cov.: 32
GnomAD4 genome ? AF: 0.0863 AC: 13130AN: 152184Hom.: 1263 Cov.: 32 AF XY: 0.0841 AC XY: 6259AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at