NM_030955.4:c.4409A>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030955.4(ADAMTS12):c.4409A>C(p.His1470Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030955.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
ADAMTS12 | ENST00000504830.6 | c.4409A>C | p.His1470Pro | missense_variant | Exon 22 of 24 | 1 | NM_030955.4 | ENSP00000422554.1 | ||
ADAMTS12 | ENST00000352040.7 | c.4154A>C | p.His1385Pro | missense_variant | Exon 20 of 22 | 1 | ENSP00000344847.3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4409A>C (p.H1470P) alteration is located in exon 22 (coding exon 22) of the ADAMTS12 gene. This alteration results from a A to C substitution at nucleotide position 4409, causing the histidine (H) at amino acid position 1470 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.