5-34929851-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001012339.3(DNAJC21):c.32G>T(p.Arg11Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000101 in 1,577,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001012339.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAJC21 | NM_001012339.3 | c.32G>T | p.Arg11Leu | missense_variant | 1/12 | ENST00000648817.1 | NP_001012339.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJC21 | ENST00000648817.1 | c.32G>T | p.Arg11Leu | missense_variant | 1/12 | NM_001012339.3 | ENSP00000497410 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151306Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000186 AC: 4AN: 215552Hom.: 0 AF XY: 0.0000253 AC XY: 3AN XY: 118650
GnomAD4 exome AF: 0.00000982 AC: 14AN: 1425856Hom.: 0 Cov.: 31 AF XY: 0.0000141 AC XY: 10AN XY: 709372
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151306Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 73862
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.32G>T (p.R11L) alteration is located in exon 1 (coding exon 1) of the DNAJC21 gene. This alteration results from a G to T substitution at nucleotide position 32, causing the arginine (R) at amino acid position 11 to be replaced by a leucine (L). 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