1-168714238-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BA1
The NM_001937.5(DPT):c.414G>A(p.Arg138Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0569 in 1,614,010 control chromosomes in the GnomAD database, including 2,943 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001937.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0409 AC: 6219AN: 152072Hom.: 165 Cov.: 32
GnomAD3 exomes AF: 0.0476 AC: 11963AN: 251260Hom.: 381 AF XY: 0.0507 AC XY: 6883AN XY: 135784
GnomAD4 exome AF: 0.0586 AC: 85664AN: 1461820Hom.: 2778 Cov.: 31 AF XY: 0.0592 AC XY: 43025AN XY: 727216
GnomAD4 genome AF: 0.0409 AC: 6217AN: 152190Hom.: 165 Cov.: 32 AF XY: 0.0400 AC XY: 2974AN XY: 74400
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at