rs150873018
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015291.4(DNAJC16):c.160C>A(p.Arg54Arg) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000125 in 1,606,320 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 32)
Exomes 𝑓: 6.9e-7 ( 0 hom. )
Consequence
DNAJC16
NM_015291.4 synonymous
NM_015291.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 4.88
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.19).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAJC16 | NM_015291.4 | c.160C>A | p.Arg54Arg | synonymous_variant | Exon 2 of 15 | ENST00000375847.8 | NP_056106.1 | |
DNAJC16 | NM_001287811.2 | c.-770+2307C>A | intron_variant | Intron 1 of 13 | NP_001274740.1 | |||
DNAJC16 | NR_109898.2 | n.289C>A | non_coding_transcript_exon_variant | Exon 2 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249916Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135174
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GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1454232Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 722312
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GnomAD4 genome AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74286
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
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DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at