16-67195929-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001950.4(E2F4):c.956G>A(p.Ser319Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,628 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151918Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000763 AC: 19AN: 248996Hom.: 0 AF XY: 0.0000890 AC XY: 12AN XY: 134812
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461592Hom.: 0 Cov.: 33 AF XY: 0.0000674 AC XY: 49AN XY: 727080
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.956G>A (p.S319N) alteration is located in exon 7 (coding exon 7) of the E2F4 gene. This alteration results from a G to A substitution at nucleotide position 956, causing the serine (S) at amino acid position 319 to be replaced by an asparagine (N). 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