4-113903070-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024590.4(ARSJ):c.1004G>A(p.Gly335Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024590.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARSJ | ENST00000315366.8 | c.1004G>A | p.Gly335Glu | missense_variant | Exon 2 of 2 | 1 | NM_024590.4 | ENSP00000320219.7 | ||
ARSJ | ENST00000509829.1 | n.*683G>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 1 | ENSP00000421327.1 | ||||
ARSJ | ENST00000509829.1 | n.*683G>A | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000421327.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152184Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727244
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1004G>A (p.G335E) alteration is located in exon 2 (coding exon 2) of the ARSJ gene. This alteration results from a G to A substitution at nucleotide position 1004, causing the glycine (G) at amino acid position 335 to be replaced by a glutamic acid (E). 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