rs1426310
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001942.4(DSG1):āc.31A>Gā(p.Met11Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.462 in 1,610,274 control chromosomes in the GnomAD database, including 178,730 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001942.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSG1 | NM_001942.4 | c.31A>G | p.Met11Val | missense_variant | 1/15 | ENST00000257192.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSG1 | ENST00000257192.5 | c.31A>G | p.Met11Val | missense_variant | 1/15 | 1 | NM_001942.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.446 AC: 67773AN: 151900Hom.: 15949 Cov.: 32
GnomAD3 exomes AF: 0.422 AC: 105843AN: 250724Hom.: 25070 AF XY: 0.435 AC XY: 59016AN XY: 135598
GnomAD4 exome AF: 0.464 AC: 676571AN: 1458256Hom.: 162784 Cov.: 35 AF XY: 0.466 AC XY: 337985AN XY: 725604
GnomAD4 genome ? AF: 0.446 AC: 67795AN: 152018Hom.: 15946 Cov.: 32 AF XY: 0.447 AC XY: 33241AN XY: 74310
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 27, 2021 | - - |
Palmoplantar keratoderma i, striate, focal, or diffuse Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at