1-15529265-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015291.4(DNAJC16):c.160C>T(p.Arg54Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000172 in 1,606,438 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_015291.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAJC16 | NM_015291.4 | c.160C>T | p.Arg54Trp | missense_variant | Exon 2 of 15 | ENST00000375847.8 | NP_056106.1 | |
DNAJC16 | NM_001287811.2 | c.-770+2307C>T | intron_variant | Intron 1 of 13 | NP_001274740.1 | |||
DNAJC16 | NR_109898.2 | n.289C>T | non_coding_transcript_exon_variant | Exon 2 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000184 AC: 46AN: 249916Hom.: 0 AF XY: 0.000185 AC XY: 25AN XY: 135174
GnomAD4 exome AF: 0.000171 AC: 249AN: 1454232Hom.: 0 Cov.: 30 AF XY: 0.000161 AC XY: 116AN XY: 722312
GnomAD4 genome AF: 0.000184 AC: 28AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.160C>T (p.R54W) alteration is located in exon 2 (coding exon 1) of the DNAJC16 gene. This alteration results from a C to T substitution at nucleotide position 160, causing the arginine (R) at amino acid position 54 to be replaced by a tryptophan (W). 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