10-70674957-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080722.4(ADAMTS14):c.484C>T(p.Pro162Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,612,942 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080722.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAMTS14 | ENST00000373207.2 | c.484C>T | p.Pro162Ser | missense_variant | Exon 2 of 22 | 1 | NM_080722.4 | ENSP00000362303.1 | ||
ADAMTS14 | ENST00000373208.5 | c.484C>T | p.Pro162Ser | missense_variant | Exon 2 of 22 | 2 | ENSP00000362304.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 248906Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135094
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460760Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726692
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.484C>T (p.P162S) alteration is located in exon 2 (coding exon 2) of the ADAMTS14 gene. This alteration results from a C to T substitution at nucleotide position 484, causing the proline (P) at amino acid position 162 to be replaced by a serine (S). 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