rs78141380
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000371069.5(DNAJC6):āc.1456C>Gā(p.Leu486Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,782 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L486F) has been classified as Likely benign.
Frequency
Consequence
ENST00000371069.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAJC6 | NM_001256864.2 | c.1456C>G | p.Leu486Val | missense_variant | 11/19 | ENST00000371069.5 | NP_001243793.1 | |
DNAJC6 | NM_014787.4 | c.1285C>G | p.Leu429Val | missense_variant | 11/19 | NP_055602.1 | ||
DNAJC6 | NM_001256865.2 | c.1246C>G | p.Leu416Val | missense_variant | 12/20 | NP_001243794.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJC6 | ENST00000371069.5 | c.1456C>G | p.Leu486Val | missense_variant | 11/19 | 1 | NM_001256864.2 | ENSP00000360108 | P4 | |
DNAJC6 | ENST00000395325.7 | c.1285C>G | p.Leu429Val | missense_variant | 11/19 | 1 | ENSP00000378735 | A1 | ||
DNAJC6 | ENST00000263441.11 | c.1246C>G | p.Leu416Val | missense_variant | 12/20 | 2 | ENSP00000263441 | A1 | ||
DNAJC6 | ENST00000494710.6 | c.1378C>G | p.Leu460Val | missense_variant | 11/12 | 5 | ENSP00000473821 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461782Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727192
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at