rs612353
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000666642.1(ENSG00000287703):n.569-6569T>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 0.448 in 152,104 control chromosomes in the GnomAD database, including 15,466 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 |
---|---|---|---|---|---|---|---|
LOC105378641 | XR_001737964.2 | n.156-31888T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378641 | XR_001737965.2 | n.156-31888T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378641 | XR_001737966.2 | n.156-31888T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000666642.1 | n.569-6569T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.447 AC: 67990AN: 151988Hom.: 15436 Cov.: 33
GnomAD4 genome ? AF: 0.448 AC: 68078AN: 152104Hom.: 15466 Cov.: 33 AF XY: 0.451 AC XY: 33560AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at