chr2-24951455-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016544.3(DNAJC27):c.628C>T(p.Arg210Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000151 in 1,613,882 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R210H) has been classified as Uncertain significance.
Frequency
Consequence
NM_016544.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAJC27 | NM_016544.3 | c.628C>T | p.Arg210Cys | missense_variant | 6/7 | ENST00000264711.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAJC27 | ENST00000264711.7 | c.628C>T | p.Arg210Cys | missense_variant | 6/7 | 1 | NM_016544.3 | P1 | |
DNAJC27 | ENST00000534855.5 | c.529-3707C>T | intron_variant | 1 | |||||
DNAJC27 | ENST00000380809.7 | c.*496C>T | 3_prime_UTR_variant, NMD_transcript_variant | 8/9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000108 AC: 27AN: 251146Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135732
GnomAD4 exome AF: 0.000151 AC: 221AN: 1461598Hom.: 0 Cov.: 30 AF XY: 0.000139 AC XY: 101AN XY: 727086
GnomAD4 genome AF: 0.000144 AC: 22AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 01, 2022 | The c.628C>T (p.R210C) alteration is located in exon 6 (coding exon 6) of the DNAJC27 gene. This alteration results from a C to T substitution at nucleotide position 628, causing the arginine (R) at amino acid position 210 to be replaced by a cysteine (C). 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