19-11199430-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_020812.4(DOCK6):c.*67G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00629 in 1,543,122 control chromosomes in the GnomAD database, including 49 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_020812.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK6 | ENST00000294618 | c.*67G>A | 3_prime_UTR_variant | Exon 48 of 48 | 1 | NM_020812.4 | ENSP00000294618.6 | |||
DOCK6 | ENST00000587734.1 | c.185G>A | p.Gly62Glu | missense_variant | Exon 2 of 2 | 5 | ENSP00000468291.1 | |||
DOCK6 | ENST00000586702.1 | n.1114G>A | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 | |||||
DOCK6 | ENST00000587656.6 | c.*67G>A | downstream_gene_variant | 5 | ENSP00000468638.2 |
Frequencies
GnomAD3 genomes AF: 0.00407 AC: 619AN: 152270Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.00471 AC: 742AN: 157612Hom.: 6 AF XY: 0.00553 AC XY: 461AN XY: 83344
GnomAD4 exome AF: 0.00654 AC: 9089AN: 1390734Hom.: 45 Cov.: 28 AF XY: 0.00663 AC XY: 4554AN XY: 686578
GnomAD4 genome AF: 0.00406 AC: 619AN: 152388Hom.: 4 Cov.: 33 AF XY: 0.00373 AC XY: 278AN XY: 74526
ClinVar
Submissions by phenotype
not provided Benign:2
DOCK6: BS1, BS2 -
See Variant Classification Assertion Criteria. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at