chr6-7572029-A-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_004415.4(DSP):āc.2091A>Gā(p.Gly697=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.766 in 1,613,788 control chromosomes in the GnomAD database, including 475,191 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. G697G) has been classified as Likely benign.
Frequency
Consequence
NM_004415.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.2091A>G | p.Gly697= | synonymous_variant | 15/24 | ENST00000379802.8 | |
DSP | NM_001319034.2 | c.2091A>G | p.Gly697= | synonymous_variant | 15/24 | ||
DSP | NM_001008844.3 | c.2091A>G | p.Gly697= | synonymous_variant | 15/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.2091A>G | p.Gly697= | synonymous_variant | 15/24 | 1 | NM_004415.4 | P2 | |
DSP | ENST00000418664.2 | c.2091A>G | p.Gly697= | synonymous_variant | 15/24 | 1 | A2 | ||
DSP | ENST00000710359.1 | c.2091A>G | p.Gly697= | synonymous_variant | 15/24 | A2 | |||
DSP | ENST00000684395.1 | n.732A>G | non_coding_transcript_exon_variant | 2/5 |
Frequencies
GnomAD3 genomes AF: 0.778 AC: 118340AN: 152014Hom.: 46193 Cov.: 32
GnomAD3 exomes AF: 0.763 AC: 191399AN: 250974Hom.: 73347 AF XY: 0.758 AC XY: 102864AN XY: 135648
GnomAD4 exome AF: 0.765 AC: 1118428AN: 1461656Hom.: 428978 Cov.: 59 AF XY: 0.764 AC XY: 555190AN XY: 727130
GnomAD4 genome AF: 0.778 AC: 118405AN: 152132Hom.: 46213 Cov.: 32 AF XY: 0.776 AC XY: 57701AN XY: 74370
ClinVar
Submissions by phenotype
not specified Benign:4
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Jul 20, 2011 | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
not provided Uncertain:1Benign:1
Uncertain significance, no assertion criteria provided | clinical testing | Department of Pathology and Laboratory Medicine, Sinai Health System | - | multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 83.525% in gnomAD_ExomesFounderPop) based on the frequency threshold of 0.5% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.A synonymous variant not located in a splice region.1 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation. - |
Benign, criteria provided, single submitter | clinical testing | Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute | - | - - |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Arrhythmogenic right ventricular dysplasia 8;C1854063:Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Cardiomyopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Mar 16, 2018 | - - |
Lethal acantholytic epidermolysis bullosa Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Woolly hair-skin fragility syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Keratosis palmoplantaris striata 2 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Cardiovascular phenotype Benign:1
Benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 09, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at