chr12-14829418-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_021071.4(ART4):c.898C>G(p.Leu300Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.108 in 1,606,268 control chromosomes in the GnomAD database, including 11,176 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_021071.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ART4 | NM_021071.4 | c.898C>G | p.Leu300Val | missense_variant | 3/3 | ENST00000228936.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ART4 | ENST00000228936.6 | c.898C>G | p.Leu300Val | missense_variant | 3/3 | 1 | NM_021071.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.120 AC: 18240AN: 152010Hom.: 1304 Cov.: 32
GnomAD3 exomes AF: 0.129 AC: 32062AN: 247736Hom.: 3153 AF XY: 0.119 AC XY: 15911AN XY: 134112
GnomAD4 exome AF: 0.106 AC: 154611AN: 1454140Hom.: 9864 Cov.: 30 AF XY: 0.104 AC XY: 74862AN XY: 723294
GnomAD4 genome ? AF: 0.120 AC: 18278AN: 152128Hom.: 1312 Cov.: 32 AF XY: 0.125 AC XY: 9295AN XY: 74372
ClinVar
Submissions by phenotype
ART4-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at