rs1060105
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBA1
The NM_001167856.3(SBNO1):c.2186G>A(p.Ser729Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.195 in 1,613,612 control chromosomes in the GnomAD database, including 32,584 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001167856.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SBNO1 | NM_001167856.3 | c.2186G>A | p.Ser729Asn | missense_variant | 17/32 | ENST00000602398.3 | |
SBNO1 | NM_018183.5 | c.2183G>A | p.Ser728Asn | missense_variant | 17/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SBNO1 | ENST00000602398.3 | c.2186G>A | p.Ser729Asn | missense_variant | 17/32 | 5 | NM_001167856.3 | P4 | |
SBNO1 | ENST00000420886.6 | c.2186G>A | p.Ser729Asn | missense_variant | 16/31 | 1 | P4 | ||
SBNO1 | ENST00000267176.8 | c.2183G>A | p.Ser728Asn | missense_variant | 17/32 | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.163 AC: 24718AN: 152002Hom.: 2364 Cov.: 32
GnomAD3 exomes AF: 0.191 AC: 47988AN: 251348Hom.: 5345 AF XY: 0.195 AC XY: 26515AN XY: 135850
GnomAD4 exome AF: 0.198 AC: 289508AN: 1461492Hom.: 30212 Cov.: 33 AF XY: 0.200 AC XY: 145502AN XY: 727064
GnomAD4 genome ? AF: 0.163 AC: 24726AN: 152120Hom.: 2372 Cov.: 32 AF XY: 0.164 AC XY: 12219AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at