5-129461150-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BS1_Supporting
The NM_133638.6(ADAMTS19):āc.140C>Gā(p.Ala47Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000568 in 1,409,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A47V) has been classified as Uncertain significance.
Frequency
Consequence
NM_133638.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS19 | NM_133638.6 | c.140C>G | p.Ala47Gly | missense_variant | 2/23 | ENST00000274487.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS19 | ENST00000274487.9 | c.140C>G | p.Ala47Gly | missense_variant | 2/23 | 1 | NM_133638.6 | P1 | |
ADAMTS19 | ENST00000505791.5 | c.91+668C>G | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152064Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000557 AC: 7AN: 1256990Hom.: 0 Cov.: 30 AF XY: 0.00000972 AC XY: 6AN XY: 617174
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152064Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74272
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 09, 2021 | The c.122C>G (p.A41G) alteration is located in exon 2 (coding exon 2) of the ADAMTS19 gene. This alteration results from a C to G substitution at nucleotide position 122, causing the alanine (A) at amino acid position 41 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