rs373315882
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_152424.4(AMER1):āc.3127A>Gā(p.Ser1043Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000206 in 1,207,408 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 71 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_152424.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000116 AC: 13AN: 112441Hom.: 0 Cov.: 23 AF XY: 0.0000289 AC XY: 1AN XY: 34647
GnomAD3 exomes AF: 0.000110 AC: 19AN: 173254Hom.: 0 AF XY: 0.0000837 AC XY: 5AN XY: 59736
GnomAD4 exome AF: 0.000216 AC: 236AN: 1094914Hom.: 0 Cov.: 35 AF XY: 0.000194 AC XY: 70AN XY: 360478
GnomAD4 genome AF: 0.000116 AC: 13AN: 112494Hom.: 0 Cov.: 23 AF XY: 0.0000288 AC XY: 1AN XY: 34710
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 04, 2024 | - - |
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at