chr2-190730966-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000676095.2(ENSG00000228509):n.263+8297A>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 0.389 in 152,000 control chromosomes in the GnomAD database, including 12,124 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000676095.2 | n.263+8297A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000676386.1 | n.703+8297A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000691949.2 | n.479+8297A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.389 AC: 59152AN: 151882Hom.: 12119 Cov.: 31
GnomAD4 genome AF: 0.389 AC: 59173AN: 152000Hom.: 12124 Cov.: 31 AF XY: 0.379 AC XY: 28189AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at