11-60869159-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBS1_Supporting
The NM_207341.4(ZP1):c.211C>G(p.Arg71Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000421 in 1,614,132 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R71Q) has been classified as Likely benign.
Frequency
Consequence
NM_207341.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251420Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135898
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727240
GnomAD4 genome AF: 0.000210 AC: 32AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74434
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.211C>G (p.R71G) alteration is located in exon 2 (coding exon 2) of the ZP1 gene. This alteration results from a C to G substitution at nucleotide position 211, causing the arginine (R) at amino acid position 71 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at