2-2770197-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000652954.1(ENSG00000237720):n.105-53648A>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 0.937 in 152,298 control chromosomes in the GnomAD database, including 67,040 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000652954.1 | n.105-53648A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000660883.1 | n.146-53648A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000671195.1 | n.410-35599A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.937 AC: 142630AN: 152180Hom.: 66997 Cov.: 33
GnomAD4 genome AF: 0.937 AC: 142732AN: 152298Hom.: 67040 Cov.: 33 AF XY: 0.938 AC XY: 69826AN XY: 74478
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at