7-155458466-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001427.4(EN2):c.89G>A(p.Gly30Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000618 in 1,294,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001427.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EN2 | NM_001427.4 | c.89G>A | p.Gly30Asp | missense_variant | 1/2 | ENST00000297375.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EN2 | ENST00000297375.4 | c.89G>A | p.Gly30Asp | missense_variant | 1/2 | 1 | NM_001427.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151652Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000612 AC: 7AN: 1143126Hom.: 0 Cov.: 30 AF XY: 0.00000914 AC XY: 5AN XY: 546906
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151652Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74060
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at