7-73683026-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM1PM2BP4_Strong
The NM_032317.3(DNAJC30):c.398C>T(p.Pro133Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00028 in 1,588,612 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. P133S) has been classified as Uncertain significance.
Frequency
Consequence
NM_032317.3 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 |
---|---|---|---|---|---|---|---|
DNAJC30 | NM_032317.3 | c.398C>T | p.Pro133Leu | missense_variant | 1/1 | ENST00000395176.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC30 | ENST00000395176.3 | c.398C>T | p.Pro133Leu | missense_variant | 1/1 | NM_032317.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152236Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000184 AC: 41AN: 222534Hom.: 0 AF XY: 0.000156 AC XY: 19AN XY: 121786
GnomAD4 exome AF: 0.000294 AC: 423AN: 1436376Hom.: 0 Cov.: 55 AF XY: 0.000292 AC XY: 208AN XY: 711218
GnomAD4 genome AF: 0.000145 AC: 22AN: 152236Hom.: 0 Cov.: 34 AF XY: 0.000121 AC XY: 9AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at