chr2-119367482-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000627305.2(DBI):c.146C>T(p.Ala49Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.194 in 1,593,650 control chromosomes in the GnomAD database, including 30,778 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/13 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000627305.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DBI | NM_001079862.4 | c.9+422C>T | intron_variant | ENST00000355857.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DBI | ENST00000355857.8 | c.9+422C>T | intron_variant | 1 | NM_001079862.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.173 AC: 26321AN: 151890Hom.: 2450 Cov.: 32
GnomAD3 exomes AF: 0.174 AC: 40798AN: 233826Hom.: 3689 AF XY: 0.173 AC XY: 22058AN XY: 127150
GnomAD4 exome AF: 0.196 AC: 282395AN: 1441642Hom.: 28327 Cov.: 48 AF XY: 0.193 AC XY: 137799AN XY: 713960
GnomAD4 genome AF: 0.173 AC: 26337AN: 152008Hom.: 2451 Cov.: 32 AF XY: 0.171 AC XY: 12695AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at