2-206818213-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000658889.1(ENSG00000229321):n.2973+16916T>G 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 0.414 in 151,956 control chromosomes in the GnomAD database, including 15,370 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000658889.1 | n.2973+16916T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000658291.1 | n.2909+16916T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000661657.1 | n.201+11333T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.414 AC: 62806AN: 151838Hom.: 15337 Cov.: 32
GnomAD4 genome ? AF: 0.414 AC: 62885AN: 151956Hom.: 15370 Cov.: 32 AF XY: 0.422 AC XY: 31350AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at