chr3-184321878-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_198241.3(EIF4G1):āc.1294A>Gā(p.Met432Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.751 in 1,613,990 control chromosomes in the GnomAD database, including 458,701 homozygotes. 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 ā ).
Frequency
Consequence
NM_198241.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.799 AC: 121520AN: 152022Hom.: 49455 Cov.: 32
GnomAD3 exomes AF: 0.755 AC: 189823AN: 251318Hom.: 72519 AF XY: 0.746 AC XY: 101341AN XY: 135838
GnomAD4 exome AF: 0.746 AC: 1091238AN: 1461850Hom.: 409186 Cov.: 89 AF XY: 0.743 AC XY: 540385AN XY: 727224
GnomAD4 genome AF: 0.799 AC: 121630AN: 152140Hom.: 49515 Cov.: 32 AF XY: 0.791 AC XY: 58826AN XY: 74346
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
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Parkinson disease 18, autosomal dominant, susceptibility to Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at