17-41996366-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_003315.4(DNAJC7):c.350G>A(p.Arg117His) variant causes a missense change. The variant allele was found at a frequency of 0.0000123 in 1,461,644 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_003315.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249182Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135194
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461644Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727106
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.350G>A (p.R117H) alteration is located in exon 4 (coding exon 4) of the DNAJC7 gene. This alteration results from a G to A substitution at nucleotide position 350, causing the arginine (R) at amino acid position 117 to be replaced by a histidine (H). 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