rs1555880229
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_025219.3(DNAJC5):c.327G>A(p.Leu109=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,480 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. Synonymous variant affecting the same amino acid position (i.e. L109L) has been classified as Likely benign.
Frequency
Consequence
NM_025219.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAJC5 | NM_025219.3 | c.327G>A | p.Leu109= | synonymous_variant | 4/5 | ENST00000360864.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC5 | ENST00000360864.9 | c.327G>A | p.Leu109= | synonymous_variant | 4/5 | 1 | NM_025219.3 | P1 | |
DNAJC5 | ENST00000470551.1 | c.327G>A | p.Leu109= | synonymous_variant, NMD_transcript_variant | 4/6 | 2 | |||
DNAJC5 | ENST00000703637.1 | c.327G>A | p.Leu109= | synonymous_variant, NMD_transcript_variant | 4/6 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460480Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726524
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.