19-29699360-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031448.6(C19orf12):c.*3352C>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 0.0000486 in 370,740 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031448.6 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000330 AC: 5AN: 151664Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000581 AC: 4AN: 68890Hom.: 0 AF XY: 0.0000790 AC XY: 3AN XY: 37966
GnomAD4 exome AF: 0.0000593 AC: 13AN: 219076Hom.: 0 Cov.: 0 AF XY: 0.0000718 AC XY: 9AN XY: 125388
GnomAD4 genome AF: 0.0000330 AC: 5AN: 151664Hom.: 0 Cov.: 30 AF XY: 0.0000540 AC XY: 4AN XY: 74052
ClinVar
Submissions by phenotype
Neurodegeneration with brain iron accumulation 4 Uncertain:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at