11-3660028-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004314.3(ART1):āc.509G>Cā(p.Arg170Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000723 in 1,613,744 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 (ā ).
Frequency
Consequence
NM_004314.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ART1 | NM_004314.3 | c.509G>C | p.Arg170Pro | missense_variant | 3/5 | ENST00000250693.2 | |
ART1 | XM_011520114.4 | c.509G>C | p.Arg170Pro | missense_variant | 4/6 | ||
ART1 | XM_017017763.3 | c.509G>C | p.Arg170Pro | missense_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ART1 | ENST00000250693.2 | c.509G>C | p.Arg170Pro | missense_variant | 3/5 | 1 | NM_004314.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000434 AC: 66AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000404 AC: 101AN: 249748Hom.: 0 AF XY: 0.000428 AC XY: 58AN XY: 135466
GnomAD4 exome AF: 0.000753 AC: 1100AN: 1461430Hom.: 0 Cov.: 34 AF XY: 0.000734 AC XY: 534AN XY: 727034
GnomAD4 genome AF: 0.000433 AC: 66AN: 152314Hom.: 0 Cov.: 33 AF XY: 0.000470 AC XY: 35AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 10, 2022 | The c.509G>C (p.R170P) alteration is located in exon 3 (coding exon 2) of the ART1 gene. This alteration results from a G to C substitution at nucleotide position 509, causing the arginine (R) at amino acid position 170 to be replaced by a proline (P). 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