NM_001042472.3:c.*148C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001042472.3(ABHD12):c.*148C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.45 in 1,542,216 control chromosomes in the GnomAD database, including 162,222 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001042472.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.450 AC: 68379AN: 151924Hom.: 16009 Cov.: 33
GnomAD4 exome AF: 0.450 AC: 625796AN: 1390174Hom.: 146204 Cov.: 41 AF XY: 0.450 AC XY: 308931AN XY: 686086
GnomAD4 genome AF: 0.450 AC: 68421AN: 152042Hom.: 16018 Cov.: 33 AF XY: 0.452 AC XY: 33563AN XY: 74320
ClinVar
Submissions by phenotype
not provided Benign:2
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PHARC syndrome Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at