12-55822730-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032364.6(DNAJC14):c.1637G>A(p.Arg546Lys) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,622 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032364.6 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAJC14 | NM_032364.6 | c.1637G>A | p.Arg546Lys | missense_variant, splice_region_variant | Exon 5 of 7 | ENST00000678005.2 | NP_115740.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJC14 | ENST00000678005.2 | c.1637G>A | p.Arg546Lys | missense_variant, splice_region_variant | Exon 5 of 7 | NM_032364.6 | ENSP00000504134.1 | |||
ENSG00000257390 | ENST00000546837.5 | c.524G>A | p.Arg175Lys | missense_variant, splice_region_variant | Exon 4 of 16 | 2 | ENSP00000447000.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249602Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134818
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461622Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727118
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1637G>A (p.R546K) alteration is located in exon 5 (coding exon 4) of the DNAJC14 gene. This alteration results from a G to A substitution at nucleotide position 1637, causing the arginine (R) at amino acid position 546 to be replaced by a lysine (K). 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