rs560787592
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001110199.3(SRRM3):c.748C>A(p.Arg250Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000552 in 1,449,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001110199.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRRM3 | NM_001110199.3 | c.748C>A | p.Arg250Arg | synonymous_variant | Exon 10 of 15 | ENST00000611745.2 | NP_001103669.1 | |
SRRM3 | NM_001291831.2 | c.748C>A | p.Arg250Arg | synonymous_variant | Exon 10 of 16 | NP_001278760.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRRM3 | ENST00000611745.2 | c.748C>A | p.Arg250Arg | synonymous_variant | Exon 10 of 15 | 5 | NM_001110199.3 | ENSP00000480851.1 | ||
SRRM3 | ENST00000464752.1 | c.-21C>A | upstream_gene_variant | 2 | ENSP00000483698.1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000552 AC: 8AN: 1449526Hom.: 0 Cov.: 30 AF XY: 0.00000832 AC XY: 6AN XY: 720772
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.