chr10-67797175-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021800.3(DNAJC12):c.538C>T(p.Arg180Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000353 in 1,613,482 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R180H) has been classified as Uncertain significance.
Frequency
Consequence
NM_021800.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAJC12 | NM_021800.3 | c.538C>T | p.Arg180Cys | missense_variant | 5/5 | ENST00000225171.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC12 | ENST00000225171.7 | c.538C>T | p.Arg180Cys | missense_variant | 5/5 | 1 | NM_021800.3 | P1 | |
DNAJC12 | ENST00000483798.6 | c.628C>T | p.Arg210Cys | missense_variant | 6/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250664Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135584
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461238Hom.: 0 Cov.: 30 AF XY: 0.0000289 AC XY: 21AN XY: 726876
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74418
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | May 11, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at