rs3750733
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_003873.7(NRP1):c.60C>T(p.Gly20Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0939 in 1,542,044 control chromosomes in the GnomAD database, including 7,778 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_003873.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0798 AC: 12145AN: 152110Hom.: 617 Cov.: 31
GnomAD3 exomes AF: 0.109 AC: 15177AN: 139364Hom.: 1100 AF XY: 0.112 AC XY: 8444AN XY: 75412
GnomAD4 exome AF: 0.0955 AC: 132685AN: 1389816Hom.: 7157 Cov.: 31 AF XY: 0.0974 AC XY: 66788AN XY: 685678
GnomAD4 genome AF: 0.0799 AC: 12159AN: 152228Hom.: 621 Cov.: 31 AF XY: 0.0819 AC XY: 6095AN XY: 74430
ClinVar
Submissions by phenotype
NRP1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at