2-172261762-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000667725.1(ENSG00000232555):n.242-36435A>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 0.784 in 152,070 control chromosomes in the GnomAD database, including 47,082 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 |
---|---|---|---|---|---|---|---|
LOC107985960 | XR_001739773.3 | n.2208+9129A>G | intron_variant, non_coding_transcript_variant | ||||
LOC107985960 | XR_001739775.3 | n.2208+9129A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000667725.1 | n.242-36435A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662340.1 | n.213-36435A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.784 AC: 119159AN: 151952Hom.: 47076 Cov.: 31
GnomAD4 genome AF: 0.784 AC: 119197AN: 152070Hom.: 47082 Cov.: 31 AF XY: 0.788 AC XY: 58579AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at