chr9-133658327-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_000787.4(DBH):c.1734C>T(p.Asn578Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0163 in 1,613,902 control chromosomes in the GnomAD database, including 258 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000787.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0126 AC: 1924AN: 152128Hom.: 17 Cov.: 32
GnomAD3 exomes AF: 0.0157 AC: 3899AN: 248846Hom.: 32 AF XY: 0.0164 AC XY: 2204AN XY: 134772
GnomAD4 exome AF: 0.0167 AC: 24356AN: 1461656Hom.: 241 Cov.: 31 AF XY: 0.0169 AC XY: 12287AN XY: 727152
GnomAD4 genome AF: 0.0126 AC: 1924AN: 152246Hom.: 17 Cov.: 32 AF XY: 0.0125 AC XY: 933AN XY: 74430
ClinVar
Submissions by phenotype
Orthostatic hypotension 1 Benign:2
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This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
DBH-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at