rs1269892200
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_212556.4(ASB18):c.885C>T(p.Ser295Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000151 in 1,324,350 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_212556.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB18 | NM_212556.4 | c.885C>T | p.Ser295Ser | synonymous_variant | Exon 4 of 6 | ENST00000409749.8 | NP_997721.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000664 AC: 1AN: 150714Hom.: 0 Cov.: 32
GnomAD4 exome AF: 8.52e-7 AC: 1AN: 1173636Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 567240
GnomAD4 genome AF: 0.00000664 AC: 1AN: 150714Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73568
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at