11-637381-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000797.4(DRD4):c.77C>T(p.Ala26Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000902 in 1,330,996 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000608 AC: 9AN: 148020Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000254 AC: 3AN: 1182976Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 578028
GnomAD4 genome AF: 0.0000608 AC: 9AN: 148020Hom.: 0 Cov.: 32 AF XY: 0.0000554 AC XY: 4AN XY: 72146
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.77C>T (p.A26V) alteration is located in exon 1 (coding exon 1) of the DRD4 gene. This alteration results from a C to T substitution at nucleotide position 77, causing the alanine (A) at amino acid position 26 to be replaced by a valine (V). 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