12-55822140-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_032364.6(DNAJC14):c.1946G>A(p.Arg649Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000997 in 1,605,594 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 (★).
Frequency
Consequence
NM_032364.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAJC14 | NM_032364.6 | c.1946G>A | p.Arg649Gln | missense_variant | Exon 7 of 7 | ENST00000678005.2 | NP_115740.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJC14 | ENST00000678005.2 | c.1946G>A | p.Arg649Gln | missense_variant | Exon 7 of 7 | NM_032364.6 | ENSP00000504134.1 | |||
ENSG00000257390 | ENST00000546837.5 | c.833G>A | p.Arg278Gln | missense_variant | Exon 6 of 16 | 2 | ENSP00000447000.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000370 AC: 9AN: 242972Hom.: 0 AF XY: 0.0000228 AC XY: 3AN XY: 131574
GnomAD4 exome AF: 0.00000757 AC: 11AN: 1453536Hom.: 0 Cov.: 31 AF XY: 0.00000692 AC XY: 5AN XY: 722742
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1946G>A (p.R649Q) alteration is located in exon 7 (coding exon 6) of the DNAJC14 gene. This alteration results from a G to A substitution at nucleotide position 1946, causing the arginine (R) at amino acid position 649 to be replaced by a glutamine (Q). 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