3-15560857-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_012260.4(HACL1):c.*8C>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 0.00221 in 1,593,954 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_012260.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00186 AC: 283AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00184 AC: 453AN: 245940Hom.: 2 AF XY: 0.00196 AC XY: 260AN XY: 132950
GnomAD4 exome AF: 0.00224 AC: 3233AN: 1441690Hom.: 7 Cov.: 26 AF XY: 0.00222 AC XY: 1595AN XY: 718038
GnomAD4 genome AF: 0.00185 AC: 282AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.00180 AC XY: 134AN XY: 74450
ClinVar
Submissions by phenotype
HACL1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at