2-99442408-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001321458.2(REV1):c.-1183G>A variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 1,612,946 control chromosomes in the GnomAD database, including 61,510 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
Consequence
NM_001321458.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.275 AC: 41821AN: 151842Hom.: 5864 Cov.: 31
GnomAD3 exomes AF: 0.275 AC: 69111AN: 251226Hom.: 10521 AF XY: 0.267 AC XY: 36289AN XY: 135776
GnomAD4 exome AF: 0.270 AC: 394779AN: 1460986Hom.: 55632 Cov.: 36 AF XY: 0.267 AC XY: 194364AN XY: 726804
GnomAD4 genome AF: 0.276 AC: 41872AN: 151960Hom.: 5878 Cov.: 31 AF XY: 0.274 AC XY: 20321AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at