chr7-111728464-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001363540.2(DOCK4):c.5738G>A(p.Ser1913Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000447 in 1,610,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1913I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001363540.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK4 | NM_001363540.2 | c.5738G>A | p.Ser1913Asn | missense_variant | Exon 53 of 53 | ENST00000428084.6 | NP_001350469.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000230 AC: 56AN: 243280Hom.: 0 AF XY: 0.000144 AC XY: 19AN XY: 132368
GnomAD4 exome AF: 0.0000432 AC: 63AN: 1458166Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 725208
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74504
ClinVar
Submissions by phenotype
DOCK4-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at