NM_033067.3:c.313G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033067.3(DMRTB1):c.313G>A(p.Gly105Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000072 in 1,374,246 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033067.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000331 AC: 5AN: 151076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000229 AC: 7AN: 30570Hom.: 0 AF XY: 0.000324 AC XY: 6AN XY: 18542
GnomAD4 exome AF: 0.0000769 AC: 94AN: 1223062Hom.: 1 Cov.: 31 AF XY: 0.000109 AC XY: 65AN XY: 598936
GnomAD4 genome AF: 0.0000331 AC: 5AN: 151184Hom.: 0 Cov.: 32 AF XY: 0.0000406 AC XY: 3AN XY: 73904
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.313G>A (p.G105R) alteration is located in exon 1 (coding exon 1) of the DMRTB1 gene. This alteration results from a G to A substitution at nucleotide position 313, causing the glycine (G) at amino acid position 105 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at