rs1609860
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017564.10(STAB2):c.1529C>A(p.Pro510His) variant causes a missense change. The variant allele was found at a frequency of 0.0903 in 1,613,778 control chromosomes in the GnomAD database, including 7,556 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P510R) has been classified as Benign.
Frequency
Consequence
NM_017564.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STAB2 | NM_017564.10 | c.1529C>A | p.Pro510His | missense_variant | 13/69 | ENST00000388887.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STAB2 | ENST00000388887.7 | c.1529C>A | p.Pro510His | missense_variant | 13/69 | 1 | NM_017564.10 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0781 AC: 11884AN: 152124Hom.: 634 Cov.: 32
GnomAD3 exomes AF: 0.102 AC: 25516AN: 251072Hom.: 1528 AF XY: 0.106 AC XY: 14372AN XY: 135698
GnomAD4 exome AF: 0.0916 AC: 133862AN: 1461536Hom.: 6920 Cov.: 31 AF XY: 0.0943 AC XY: 68575AN XY: 727054
GnomAD4 genome AF: 0.0781 AC: 11884AN: 152242Hom.: 636 Cov.: 32 AF XY: 0.0848 AC XY: 6316AN XY: 74444
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at