2-182732507-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018981.4(DNAJC10):c.814A>G(p.Thr272Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,386 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018981.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAJC10 | NM_018981.4 | c.814A>G | p.Thr272Ala | missense_variant | 10/24 | ENST00000264065.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC10 | ENST00000264065.12 | c.814A>G | p.Thr272Ala | missense_variant | 10/24 | 1 | NM_018981.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152030Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 251036Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135708
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461356Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726972
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152030Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.814A>G (p.T272A) alteration is located in exon 10 (coding exon 8) of the DNAJC10 gene. This alteration results from a A to G substitution at nucleotide position 814, causing the threonine (T) at amino acid position 272 to be replaced by an alanine (A). 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