rs566697767
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PP3_ModerateBS2_Supporting
The NM_020634.3(GDF3):c.974C>T(p.Pro325Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000477 in 1,613,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P325T) has been classified as Uncertain significance.
Frequency
Consequence
NM_020634.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GDF3 | NM_020634.3 | c.974C>T | p.Pro325Leu | missense_variant | 2/2 | ENST00000329913.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GDF3 | ENST00000329913.4 | c.974C>T | p.Pro325Leu | missense_variant | 2/2 | 1 | NM_020634.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251474Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135914
GnomAD4 exome AF: 0.0000493 AC: 72AN: 1461648Hom.: 0 Cov.: 32 AF XY: 0.0000701 AC XY: 51AN XY: 727128
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74430
ClinVar
Submissions by phenotype
Microphthalmia, isolated, with coloboma 6 Uncertain:1
Uncertain significance, no assertion criteria provided | research | Eye Genetics Research Group, Children's Medical Research Institute | Mar 30, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at