rs17216529
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001735.3(C5):c.433G>A(p.Val145Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0766 in 1,498,624 control chromosomes in the GnomAD database, including 6,267 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001735.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C5 | NM_001735.3 | c.433G>A | p.Val145Ile | missense_variant | Exon 4 of 41 | ENST00000223642.3 | NP_001726.2 | |
C5 | NM_001317163.2 | c.451G>A | p.Val151Ile | missense_variant | Exon 4 of 41 | NP_001304092.1 | ||
C5 | NM_001317164.2 | c.433G>A | p.Val145Ile | missense_variant | Exon 4 of 21 | NP_001304093.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.123 AC: 18643AN: 151962Hom.: 1650 Cov.: 32
GnomAD3 exomes AF: 0.0779 AC: 17595AN: 225812Hom.: 1047 AF XY: 0.0731 AC XY: 8937AN XY: 122290
GnomAD4 exome AF: 0.0714 AC: 96080AN: 1346544Hom.: 4615 Cov.: 21 AF XY: 0.0701 AC XY: 47142AN XY: 672146
GnomAD4 genome AF: 0.123 AC: 18677AN: 152080Hom.: 1652 Cov.: 32 AF XY: 0.119 AC XY: 8830AN XY: 74330
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 22, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 03, 2025 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at