rs121912646
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_003235.5(TG):c.4588C>A(p.Arg1530Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,876 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_003235.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TG | ENST00000220616.9 | c.4588C>A | p.Arg1530Arg | synonymous_variant | Exon 22 of 48 | 1 | NM_003235.5 | ENSP00000220616.4 | ||
TG | ENST00000523756.5 | n.*801C>A | non_coding_transcript_exon_variant | Exon 9 of 35 | 1 | ENSP00000428628.1 | ||||
TG | ENST00000523756.5 | n.*801C>A | 3_prime_UTR_variant | Exon 9 of 35 | 1 | ENSP00000428628.1 | ||||
TG | ENST00000519178.5 | c.145C>A | p.Arg49Arg | synonymous_variant | Exon 2 of 27 | 2 | ENSP00000430523.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727234
GnomAD4 genome Cov.: 31
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.