chr4-113902542-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_024590.4(ARSJ):c.1532G>A(p.Arg511Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00125 in 1,613,970 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R511W) has been classified as Uncertain significance.
Frequency
Consequence
NM_024590.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARSJ | ENST00000315366.8 | c.1532G>A | p.Arg511Lys | missense_variant | Exon 2 of 2 | 1 | NM_024590.4 | ENSP00000320219.7 | ||
ARSJ | ENST00000509829.1 | n.*1211G>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 1 | ENSP00000421327.1 | ||||
ARSJ | ENST00000509829.1 | n.*1211G>A | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000421327.1 |
Frequencies
GnomAD3 genomes AF: 0.000835 AC: 127AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000781 AC: 195AN: 249550Hom.: 1 AF XY: 0.000820 AC XY: 111AN XY: 135394
GnomAD4 exome AF: 0.00130 AC: 1894AN: 1461890Hom.: 2 Cov.: 32 AF XY: 0.00127 AC XY: 924AN XY: 727246
GnomAD4 genome AF: 0.000835 AC: 127AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.000781 AC XY: 58AN XY: 74272
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1532G>A (p.R511K) 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 1532, causing the arginine (R) at amino acid position 511 to be replaced by a lysine (K). 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