rs428785
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006988.5(ADAMTS1):āc.679G>Cā(p.Ala227Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.755 in 1,599,118 control chromosomes in the GnomAD database, including 461,501 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_006988.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS1 | NM_006988.5 | c.679G>C | p.Ala227Pro | missense_variant | 1/9 | ENST00000284984.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS1 | ENST00000284984.8 | c.679G>C | p.Ala227Pro | missense_variant | 1/9 | 1 | NM_006988.5 | P1 | |
ADAMTS1 | ENST00000676955.1 | c.679G>C | p.Ala227Pro | missense_variant | 1/8 | ||||
ADAMTS1 | ENST00000679316.1 | n.1134G>C | non_coding_transcript_exon_variant | 1/7 | |||||
ADAMTS1 | ENST00000677958.1 | c.679G>C | p.Ala227Pro | missense_variant, NMD_transcript_variant | 1/9 |
Frequencies
GnomAD3 genomes ? AF: 0.772 AC: 117356AN: 152028Hom.: 46294 Cov.: 33
GnomAD3 exomes AF: 0.703 AC: 162611AN: 231396Hom.: 59254 AF XY: 0.711 AC XY: 89517AN XY: 125900
GnomAD4 exome AF: 0.753 AC: 1089855AN: 1446972Hom.: 415153 Cov.: 69 AF XY: 0.752 AC XY: 540191AN XY: 718326
GnomAD4 genome ? AF: 0.772 AC: 117462AN: 152146Hom.: 46348 Cov.: 33 AF XY: 0.767 AC XY: 57017AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at