rs151344613
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS2_Supporting
The ENST00000420175.3(ASB10):c.628C>T(p.Arg210Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,608,814 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R210R) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000420175.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.628C>T | p.Arg210Trp | missense_variant | 3/6 | ENST00000420175.3 | NP_001135931.2 | |
ASB10 | NM_080871.4 | c.583C>T | p.Arg195Trp | missense_variant | 3/6 | NP_543147.2 | ||
ASB10 | NM_001142460.1 | c.628C>T | p.Arg210Trp | missense_variant | 3/5 | NP_001135932.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.628C>T | p.Arg210Trp | missense_variant | 3/6 | 1 | NM_001142459.2 | ENSP00000391137 | P4 | |
ASB10 | ENST00000275838.5 | c.628C>T | p.Arg210Trp | missense_variant | 3/5 | 1 | ENSP00000275838 | |||
ASB10 | ENST00000377867.7 | c.583C>T | p.Arg195Trp | missense_variant | 3/6 | 2 | ENSP00000367098 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000205 AC: 5AN: 244464Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133342
GnomAD4 exome AF: 0.0000227 AC: 33AN: 1456742Hom.: 0 Cov.: 34 AF XY: 0.0000207 AC XY: 15AN XY: 723948
GnomAD4 genome AF: 0.0000395 AC: 6AN: 152072Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at