rs55634318
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_002608.4(PDGFB):c.453C>G(p.Val151Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0137 in 1,562,296 control chromosomes in the GnomAD database, including 176 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_002608.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PDGFB | NM_002608.4 | c.453C>G | p.Val151Val | synonymous_variant | Exon 4 of 7 | ENST00000331163.11 | NP_002599.1 | |
PDGFB | NM_033016.3 | c.408C>G | p.Val136Val | synonymous_variant | Exon 4 of 7 | NP_148937.1 | ||
PDGFB | XM_047441393.1 | c.360C>G | p.Val120Val | synonymous_variant | Exon 4 of 7 | XP_047297349.1 | ||
PDGFB | XM_047441394.1 | c.360C>G | p.Val120Val | synonymous_variant | Exon 4 of 7 | XP_047297350.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PDGFB | ENST00000331163.11 | c.453C>G | p.Val151Val | synonymous_variant | Exon 4 of 7 | 1 | NM_002608.4 | ENSP00000330382.6 | ||
PDGFB | ENST00000381551.8 | c.408C>G | p.Val136Val | synonymous_variant | Exon 4 of 7 | 5 | ENSP00000370963.4 | |||
PDGFB | ENST00000455790.5 | c.360C>G | p.Val120Val | synonymous_variant | Exon 4 of 5 | 4 | ENSP00000402306.1 | |||
PDGFB | ENST00000440375.1 | c.360C>G | p.Val120Val | synonymous_variant | Exon 4 of 5 | 4 | ENSP00000405780.1 |
Frequencies
GnomAD3 genomes AF: 0.0196 AC: 2978AN: 152192Hom.: 50 Cov.: 32
GnomAD3 exomes AF: 0.0117 AC: 2011AN: 171928Hom.: 15 AF XY: 0.0114 AC XY: 1053AN XY: 92268
GnomAD4 exome AF: 0.0130 AC: 18377AN: 1409986Hom.: 125 Cov.: 31 AF XY: 0.0130 AC XY: 9050AN XY: 697104
GnomAD4 genome AF: 0.0197 AC: 3008AN: 152310Hom.: 51 Cov.: 32 AF XY: 0.0195 AC XY: 1455AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:2
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PDGFB-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