chr1-72346221-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000665984.1(ENSG00000286863):n.153+62816G>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 0.637 in 151,856 control chromosomes in the GnomAD database, including 31,342 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 |
---|---|---|---|---|---|---|---|
LOC105378797 | XR_001737670.2 | n.472+62816G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_001737671.3 | n.472+62816G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_947505.3 | n.472+62816G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378797 | XR_947506.3 | n.472+62816G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665984.1 | n.153+62816G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653965.1 | n.236+62816G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667836.1 | n.227+62816G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000688733.1 | n.56+62816G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.637 AC: 96702AN: 151738Hom.: 31325 Cov.: 31
GnomAD4 genome AF: 0.637 AC: 96757AN: 151856Hom.: 31342 Cov.: 31 AF XY: 0.643 AC XY: 47730AN XY: 74224
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at