rs4134425
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000652126.1(ENSG00000258526):n.458-51320T>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 0.682 in 151,832 control chromosomes in the GnomAD database, including 35,624 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000652126.1 | n.458-51320T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000650911.1 | n.418-51320T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000651829.1 | n.1619-262T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.682 AC: 103484AN: 151714Hom.: 35588 Cov.: 32
GnomAD4 genome ? AF: 0.682 AC: 103570AN: 151832Hom.: 35624 Cov.: 32 AF XY: 0.679 AC XY: 50361AN XY: 74154
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at