chr12-77034171-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_203394.3(E2F7):c.1124-129G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000419 in 716,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_203394.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
E2F7 | NM_203394.3 | c.1124-129G>T | intron_variant | ENST00000322886.12 | |||
E2F7 | XM_011537966.3 | c.989-129G>T | intron_variant | ||||
E2F7 | XM_011537969.3 | c.821-129G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
E2F7 | ENST00000322886.12 | c.1124-129G>T | intron_variant | 1 | NM_203394.3 | P1 | |||
E2F7 | ENST00000550669.5 | c.1124-129G>T | intron_variant | 1 | |||||
E2F7 | ENST00000416496.6 | c.1124-129G>T | intron_variant | 5 | |||||
E2F7 | ENST00000552907.5 | c.*149-129G>T | intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151914Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000354 AC: 2AN: 564672Hom.: 0 AF XY: 0.00000352 AC XY: 1AN XY: 284042
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151914Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74158
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at