chr7-111732245-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001363540.2(DOCK4):c.5462C>T(p.Ala1821Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,614,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001363540.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK4 | NM_001363540.2 | c.5462C>T | p.Ala1821Val | missense_variant | 52/53 | ENST00000428084.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK4 | ENST00000428084.6 | c.5462C>T | p.Ala1821Val | missense_variant | 52/53 | 5 | NM_001363540.2 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000112 AC: 28AN: 249228Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 135222
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461684Hom.: 0 Cov.: 31 AF XY: 0.0000564 AC XY: 41AN XY: 727120
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 05, 2023 | The c.5435C>T (p.A1812V) alteration is located in exon 51 (coding exon 51) of the DOCK4 gene. This alteration results from a C to T substitution at nucleotide position 5435, causing the alanine (A) at amino acid position 1812 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