4-70518820-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_212557.4(AMTN):c.43C>T(p.Arg15Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.128 in 1,604,560 control chromosomes in the GnomAD database, including 14,534 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 Benign (no stars).
Frequency
Consequence
NM_212557.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.104 AC: 15834AN: 152082Hom.: 1075 Cov.: 32
GnomAD3 exomes AF: 0.127 AC: 31960AN: 250934Hom.: 2262 AF XY: 0.132 AC XY: 17964AN XY: 135644
GnomAD4 exome AF: 0.131 AC: 190276AN: 1452360Hom.: 13453 Cov.: 33 AF XY: 0.133 AC XY: 95979AN XY: 722912
GnomAD4 genome AF: 0.104 AC: 15839AN: 152200Hom.: 1081 Cov.: 32 AF XY: 0.103 AC XY: 7698AN XY: 74404
ClinVar
Submissions by phenotype
AMTN-related disorder Benign:1
This variant is classified as 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