rs73369534
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_032122.5(DTNBP1):āc.874A>Gā(p.Arg292Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00458 in 1,614,228 control chromosomes in the GnomAD database, including 294 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_032122.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DTNBP1 | NM_032122.5 | c.874A>G | p.Arg292Gly | missense_variant | 10/10 | ENST00000344537.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DTNBP1 | ENST00000344537.10 | c.874A>G | p.Arg292Gly | missense_variant | 10/10 | 1 | NM_032122.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0241 AC: 3662AN: 152220Hom.: 163 Cov.: 33
GnomAD3 exomes AF: 0.00674 AC: 1696AN: 251490Hom.: 72 AF XY: 0.00483 AC XY: 656AN XY: 135920
GnomAD4 exome AF: 0.00255 AC: 3731AN: 1461890Hom.: 132 Cov.: 31 AF XY: 0.00222 AC XY: 1616AN XY: 727246
GnomAD4 genome ? AF: 0.0240 AC: 3662AN: 152338Hom.: 162 Cov.: 33 AF XY: 0.0239 AC XY: 1784AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 04, 2019 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Feb 21, 2013 | Arg292Gly in exon 10 of DTNBP1: This variant is not expected to have clinical si gnificance because it has been identified in 9.1% (400/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs73369534). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at