13-95677333-C-T
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_006260.5(DNAJC3):c.78C>T(p.Tyr26Tyr) variant causes a synonymous change. The variant allele was found at a frequency of 0.0034 in 1,598,302 control chromosomes in the GnomAD database, including 38 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006260.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00242 AC: 369AN: 152186Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00389 AC: 902AN: 231960Hom.: 10 AF XY: 0.00482 AC XY: 610AN XY: 126434
GnomAD4 exome AF: 0.00350 AC: 5063AN: 1446004Hom.: 36 Cov.: 31 AF XY: 0.00395 AC XY: 2843AN XY: 719372
GnomAD4 genome AF: 0.00241 AC: 367AN: 152298Hom.: 2 Cov.: 33 AF XY: 0.00262 AC XY: 195AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:2
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DNAJC3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at