19-29699355-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBS1_Supporting
The NM_031448.6(C19orf12):c.*3357G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000112 in 364,996 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 -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000793 AC: 12AN: 151266Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000310 AC: 21AN: 67668Hom.: 0 AF XY: 0.000349 AC XY: 13AN XY: 37256
GnomAD4 exome AF: 0.000136 AC: 29AN: 213614Hom.: 0 Cov.: 0 AF XY: 0.000131 AC XY: 16AN XY: 122046
GnomAD4 genome AF: 0.0000793 AC: 12AN: 151382Hom.: 0 Cov.: 31 AF XY: 0.0000947 AC XY: 7AN XY: 73910
ClinVar
Submissions by phenotype
Neurodegeneration with brain iron accumulation 4 Uncertain: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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at