chr16-67195875-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001950.4(E2F4):āc.902C>Gā(p.Ser301Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000132 in 151,080 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001950.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151080Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151080Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73804
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.902C>G (p.S301C) alteration is located in exon 7 (coding exon 7) of the E2F4 gene. This alteration results from a C to G substitution at nucleotide position 902, causing the serine (S) at amino acid position 301 to be replaced by a cysteine (C). 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