NM_001950.4:c.515G>T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001950.4(E2F4):c.515G>T(p.Gly172Val) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000503 in 1,610,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001950.4 missense, splice_region
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: 0.000289 AC: 44AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000196 AC: 49AN: 250298Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135358
GnomAD4 exome AF: 0.000526 AC: 767AN: 1458622Hom.: 0 Cov.: 31 AF XY: 0.000502 AC XY: 364AN XY: 724850
GnomAD4 genome AF: 0.000289 AC: 44AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.515G>T (p.G172V) alteration is located in exon 6 (coding exon 6) of the E2F4 gene. This alteration results from a G to T substitution at nucleotide position 515, causing the glycine (G) at amino acid position 172 to be replaced by a valine (V). 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