rs25754
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_030955.4(ADAMTS12):c.4484C>T(p.Thr1495Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.434 in 1,611,788 control chromosomes in the GnomAD database, including 160,294 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_030955.4 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 |
---|---|---|---|---|---|---|---|
ADAMTS12 | NM_030955.4 | c.4484C>T | p.Thr1495Ile | missense_variant | 23/24 | ENST00000504830.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS12 | ENST00000504830.6 | c.4484C>T | p.Thr1495Ile | missense_variant | 23/24 | 1 | NM_030955.4 | P1 | |
ADAMTS12 | ENST00000352040.7 | c.4229C>T | p.Thr1410Ile | missense_variant | 21/22 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.481 AC: 72992AN: 151834Hom.: 18684 Cov.: 32
GnomAD3 exomes AF: 0.490 AC: 122233AN: 249350Hom.: 32447 AF XY: 0.487 AC XY: 65650AN XY: 134838
GnomAD4 exome AF: 0.430 AC: 627049AN: 1459836Hom.: 141577 Cov.: 40 AF XY: 0.432 AC XY: 314082AN XY: 726242
GnomAD4 genome ? AF: 0.481 AC: 73076AN: 151952Hom.: 18717 Cov.: 32 AF XY: 0.487 AC XY: 36155AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at