rs199927759
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_015275.3(WASHC4):āc.995T>Cā(p.Ile332Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0018 in 1,602,134 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015275.3 missense
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: 0.000868 AC: 132AN: 152126Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00121 AC: 301AN: 248532Hom.: 0 AF XY: 0.00125 AC XY: 169AN XY: 134862
GnomAD4 exome AF: 0.00190 AC: 2752AN: 1449890Hom.: 7 Cov.: 28 AF XY: 0.00191 AC XY: 1380AN XY: 721974
GnomAD4 genome AF: 0.000867 AC: 132AN: 152244Hom.: 1 Cov.: 32 AF XY: 0.000900 AC XY: 67AN XY: 74436
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Apr 21, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at