rs782009073
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_031407.7(HUWE1):c.10035+6G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000876 in 1,186,964 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 56 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_031407.7 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HUWE1 | NM_031407.7 | c.10035+6G>A | splice_region_variant, intron_variant | Intron 67 of 83 | ENST00000262854.11 | NP_113584.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000107 AC: 12AN: 111865Hom.: 0 Cov.: 23 AF XY: 0.000176 AC XY: 6AN XY: 34045
GnomAD3 exomes AF: 0.000204 AC: 29AN: 142033Hom.: 0 AF XY: 0.000347 AC XY: 15AN XY: 43187
GnomAD4 exome AF: 0.0000856 AC: 92AN: 1075047Hom.: 0 Cov.: 31 AF XY: 0.000143 AC XY: 50AN XY: 349553
GnomAD4 genome AF: 0.000107 AC: 12AN: 111917Hom.: 0 Cov.: 23 AF XY: 0.000176 AC XY: 6AN XY: 34107
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | Sep 28, 2016 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 03, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at