11-81273177-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000701193.1(ENSG00000287912):n.114-1699G>T 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 0.272 in 151,880 control chromosomes in the GnomAD database, including 6,427 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000701193.1 | n.114-1699G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000671134.1 | n.324-1699G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000671210.1 | n.310-1699G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.272 AC: 41286AN: 151762Hom.: 6416 Cov.: 32
GnomAD4 genome AF: 0.272 AC: 41324AN: 151880Hom.: 6427 Cov.: 32 AF XY: 0.274 AC XY: 20336AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at