14-40370665-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000652126.1(ENSG00000258526):n.643-856A>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 0.786 in 151,836 control chromosomes in the GnomAD database, including 48,314 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 |
---|---|---|---|---|---|---|---|
LOC105370462 | XR_007064129.1 | n.196-856A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105370462 | XR_943784.3 | n.192-856A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105370462 | XR_943785.3 | n.730-856A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000652126.1 | n.643-856A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000553464.2 | n.501-15587A>G | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000663500.1 | n.481-15587A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.786 AC: 119319AN: 151720Hom.: 48304 Cov.: 32
GnomAD4 genome AF: 0.786 AC: 119374AN: 151836Hom.: 48314 Cov.: 32 AF XY: 0.792 AC XY: 58761AN XY: 74214
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at