NM_003754.3:c.41C>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003754.3(EIF3F):c.41C>T(p.Thr14Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000669 in 1,599,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003754.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000315 AC: 48AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000823 AC: 19AN: 230974Hom.: 0 AF XY: 0.0000706 AC XY: 9AN XY: 127546
GnomAD4 exome AF: 0.0000394 AC: 57AN: 1447474Hom.: 0 Cov.: 31 AF XY: 0.0000319 AC XY: 23AN XY: 720480
GnomAD4 genome AF: 0.000328 AC: 50AN: 152364Hom.: 0 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74512
ClinVar
Submissions by phenotype
Intellectual developmental disorder, autosomal recessive 67 Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at