rs201946741
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003315.4(DNAJC7):c.700G>T(p.Val234Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,613,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V234I) has been classified 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 -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249216Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135196
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461704Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727130
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at