14-55369623-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014924.5(ATG14):c.1475G>A(p.Arg492His) variant causes a missense change. The variant allele was found at a frequency of 0.0000191 in 1,514,396 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014924.5 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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATG14 | ENST00000247178.6 | c.1475G>A | p.Arg492His | missense_variant | Exon 10 of 10 | 1 | NM_014924.5 | ENSP00000247178.5 | ||
ATG14 | ENST00000558189.1 | n.1458G>A | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 | |||||
FBXO34 | ENST00000681074.1 | n.*589-238C>T | intron_variant | Intron 4 of 4 | ENSP00000506304.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000434 AC: 8AN: 184350Hom.: 0 AF XY: 0.0000618 AC XY: 6AN XY: 97122
GnomAD4 exome AF: 0.0000191 AC: 26AN: 1362190Hom.: 0 Cov.: 30 AF XY: 0.0000180 AC XY: 12AN XY: 666498
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1475G>A (p.R492H) alteration is located in exon 10 (coding exon 10) of the ATG14 gene. This alteration results from a G to A substitution at nucleotide position 1475, causing the arginine (R) at amino acid position 492 to be replaced by a histidine (H). 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