chr13-98829351-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001366683.2(DOCK9):c.4921G>A(p.Asp1641Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,613,132 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366683.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK9 | NM_001366683.2 | c.4921G>A | p.Asp1641Asn | missense_variant | Exon 43 of 53 | ENST00000682017.1 | NP_001353612.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DOCK9 | ENST00000682017.1 | c.4921G>A | p.Asp1641Asn | missense_variant | Exon 43 of 53 | NM_001366683.2 | ENSP00000507034.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000283 AC: 7AN: 247680Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134412
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461006Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 726720
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4855G>A (p.D1619N) alteration is located in exon 43 (coding exon 43) of the DOCK9 gene. This alteration results from a G to A substitution at nucleotide position 4855, causing the aspartic acid (D) at amino acid position 1619 to be replaced by an asparagine (N). 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