16-67194689-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001950.4(E2F4):c.517C>T(p.Leu173Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,611,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001950.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250280Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135328
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1458954Hom.: 0 Cov.: 31 AF XY: 0.00000414 AC XY: 3AN XY: 725148
GnomAD4 genome AF: 0.000105 AC: 16AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.517C>T (p.L173F) alteration is located in exon 6 (coding exon 6) of the E2F4 gene. This alteration results from a C to T substitution at nucleotide position 517, causing the leucine (L) at amino acid position 173 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at