rs34620697
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_177986.5(DSG4):āc.1568C>Gā(p.Pro523Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,862 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P523L) has been classified as Likely benign.
Frequency
Consequence
NM_177986.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSG4 | NM_177986.5 | c.1568C>G | p.Pro523Arg | missense_variant | 11/16 | ENST00000308128.9 | |
DSG1-AS1 | NR_110788.1 | n.156+23267G>C | intron_variant, non_coding_transcript_variant | ||||
DSG4 | NM_001134453.3 | c.1568C>G | p.Pro523Arg | missense_variant | 11/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSG4 | ENST00000308128.9 | c.1568C>G | p.Pro523Arg | missense_variant | 11/16 | 1 | NM_177986.5 | P2 | |
DSG4 | ENST00000359747.4 | c.1568C>G | p.Pro523Arg | missense_variant | 11/15 | 1 | A2 | ||
DSG1-AS1 | ENST00000581856.5 | n.95+23267G>C | intron_variant, non_coding_transcript_variant | 3 | |||||
DSG1-AS1 | ENST00000578477.5 | n.156+23267G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152084Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461778Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727188
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152084Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at