rs1558878
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001267727.2(ARSG):āc.820T>Cā(p.Trp274Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.471 in 1,613,180 control chromosomes in the GnomAD database, including 182,582 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001267727.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARSG | NM_001267727.2 | c.820T>C | p.Trp274Arg | missense_variant | 7/12 | ENST00000621439.5 | NP_001254656.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARSG | ENST00000621439.5 | c.820T>C | p.Trp274Arg | missense_variant | 7/12 | 5 | NM_001267727.2 | ENSP00000480910.1 | ||
ARSG | ENST00000448504.6 | c.820T>C | p.Trp274Arg | missense_variant | 7/12 | 1 | ENSP00000407193.2 | |||
ARSG | ENST00000452479.6 | c.328T>C | p.Trp110Arg | missense_variant | 6/11 | 5 | ENSP00000413953.2 | |||
ARSG | ENST00000582154.5 | n.578T>C | non_coding_transcript_exon_variant | 5/10 | 2 |
Frequencies
GnomAD3 genomes AF: 0.436 AC: 66295AN: 152126Hom.: 14942 Cov.: 34
GnomAD3 exomes AF: 0.445 AC: 111488AN: 250300Hom.: 25819 AF XY: 0.449 AC XY: 60675AN XY: 135282
GnomAD4 exome AF: 0.475 AC: 693749AN: 1460936Hom.: 167643 Cov.: 53 AF XY: 0.474 AC XY: 344753AN XY: 726758
GnomAD4 genome AF: 0.436 AC: 66316AN: 152244Hom.: 14939 Cov.: 34 AF XY: 0.434 AC XY: 32343AN XY: 74452
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
Usher syndrome, type 4 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 14, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at