chr11-3640365-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_053017.5(ART5):c.64G>C(p.Ala22Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_053017.5 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 |
---|---|---|---|---|---|---|---|
ART5 | NM_053017.5 | c.64G>C | p.Ala22Pro | missense_variant | 2/4 | ENST00000397068.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ART5 | ENST00000397068.8 | c.64G>C | p.Ala22Pro | missense_variant | 2/4 | 1 | NM_053017.5 | P1 | |
ART5 | ENST00000359918.8 | c.64G>C | p.Ala22Pro | missense_variant | 3/5 | 1 | P1 | ||
ART5 | ENST00000397067.7 | c.64G>C | p.Ala22Pro | missense_variant | 2/4 | 1 | |||
ART5 | ENST00000425767.2 | c.1G>C | p.Ala1Pro | missense_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 14, 2022 | The c.64G>C (p.A22P) alteration is located in exon 2 (coding exon 2) of the ART5 gene. This alteration results from a G to C substitution at nucleotide position 64, causing the alanine (A) at amino acid position 22 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
Publications
No publications associated with this variant yet.