chr7-103319669-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014377.3(DNAJC2):āc.1182C>Gā(p.Cys394Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000062 in 1,613,740 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014377.3 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 | UniProt |
---|---|---|---|---|---|---|---|
DNAJC2 | NM_014377.3 | c.1182C>G | p.Cys394Trp | missense_variant | 12/17 | ENST00000379263.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC2 | ENST00000379263.8 | c.1182C>G | p.Cys394Trp | missense_variant | 12/17 | 1 | NM_014377.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000527 AC: 8AN: 151896Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000641 AC: 16AN: 249454Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135346
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461844Hom.: 0 Cov.: 32 AF XY: 0.0000660 AC XY: 48AN XY: 727216
GnomAD4 genome AF: 0.0000527 AC: 8AN: 151896Hom.: 0 Cov.: 32 AF XY: 0.0000540 AC XY: 4AN XY: 74138
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2024 | The c.1182C>G (p.C394W) alteration is located in exon 12 (coding exon 12) of the DNAJC2 gene. This alteration results from a C to G substitution at nucleotide position 1182, causing the cysteine (C) at amino acid position 394 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