rs28480169
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_207173.2(NPSR1):c.1040G>A(p.Arg347His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0738 in 1,598,622 control chromosomes in the GnomAD database, including 5,124 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_207173.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0651 AC: 9904AN: 152084Hom.: 453 Cov.: 32
GnomAD3 exomes AF: 0.0670 AC: 16185AN: 241456Hom.: 689 AF XY: 0.0697 AC XY: 9068AN XY: 130130
GnomAD4 exome AF: 0.0748 AC: 108127AN: 1446420Hom.: 4671 Cov.: 29 AF XY: 0.0755 AC XY: 54332AN XY: 719284
GnomAD4 genome AF: 0.0650 AC: 9900AN: 152202Hom.: 453 Cov.: 32 AF XY: 0.0647 AC XY: 4812AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at