rs12935394
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_199355.4(ADAMTS18):c.2836G>T(p.Ala946Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.127 in 1,614,064 control chromosomes in the GnomAD database, including 14,034 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_199355.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS18 | NM_199355.4 | c.2836G>T | p.Ala946Ser | missense_variant | 19/23 | ENST00000282849.10 | |
LOC124903727 | XR_007065122.1 | n.181-3797C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS18 | ENST00000282849.10 | c.2836G>T | p.Ala946Ser | missense_variant | 19/23 | 1 | NM_199355.4 | P1 | |
ENST00000648730.1 | n.118-3797C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.102 AC: 15480AN: 152102Hom.: 1012 Cov.: 32
GnomAD3 exomes AF: 0.135 AC: 33918AN: 250998Hom.: 2718 AF XY: 0.134 AC XY: 18185AN XY: 135650
GnomAD4 exome AF: 0.130 AC: 190155AN: 1461844Hom.: 13022 Cov.: 33 AF XY: 0.130 AC XY: 94657AN XY: 727218
GnomAD4 genome ? AF: 0.102 AC: 15476AN: 152220Hom.: 1012 Cov.: 32 AF XY: 0.102 AC XY: 7615AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at