20-35437412-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000557.5(GDF5):āc.517A>Cā(p.Met173Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000557.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GDF5 | NM_000557.5 | c.517A>C | p.Met173Leu | missense_variant | 1/2 | ENST00000374369.8 | NP_000548.2 | |
GDF5 | NM_001319138.2 | c.517A>C | p.Met173Leu | missense_variant | 3/4 | NP_001306067.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GDF5 | ENST00000374369.8 | c.517A>C | p.Met173Leu | missense_variant | 1/2 | 1 | NM_000557.5 | ENSP00000363489.3 | ||
GDF5 | ENST00000374372.1 | c.517A>C | p.Met173Leu | missense_variant | 3/4 | 1 | ENSP00000363492.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251252Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135802
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461392Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726998
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at