7-103337754-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014377.3(DNAJC2):āc.313A>Gā(p.Arg105Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,613,690 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014377.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249336Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135274
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461476Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727068
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.313A>G (p.R105G) alteration is located in exon 3 (coding exon 3) of the DNAJC2 gene. This alteration results from a A to G substitution at nucleotide position 313, causing the arginine (R) at amino acid position 105 to be replaced by a glycine (G). 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