rs6042507
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001122962.2(SIRPB2):c.644A>T(p.Glu215Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000985 in 1,613,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E215A) has been classified as Likely benign.
Frequency
Consequence
NM_001122962.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000964 AC: 24AN: 249052Hom.: 0 AF XY: 0.0000887 AC XY: 12AN XY: 135334
GnomAD4 exome AF: 0.000104 AC: 152AN: 1461880Hom.: 0 Cov.: 76 AF XY: 0.000125 AC XY: 91AN XY: 727242
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74270
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at