chr4-3473601-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 4P and 3B. PM1PM2BP4_ModerateBP6
The NM_173660.5(DOK7):c.296C>T(p.Ala99Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000146 in 1,601,886 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_173660.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000460 AC: 70AN: 152212Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000137 AC: 32AN: 234200Hom.: 0 AF XY: 0.0000857 AC XY: 11AN XY: 128318
GnomAD4 exome AF: 0.000113 AC: 164AN: 1449556Hom.: 0 Cov.: 33 AF XY: 0.000101 AC XY: 73AN XY: 719656
GnomAD4 genome AF: 0.000460 AC: 70AN: 152330Hom.: 0 Cov.: 34 AF XY: 0.000483 AC XY: 36AN XY: 74484
ClinVar
Submissions by phenotype
not provided Uncertain:3
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In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20603078, 20012313, 26198629) -
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Fetal akinesia deformation sequence 1 Uncertain:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
not specified Benign:1
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Fetal akinesia deformation sequence 1;C1850792:Congenital myasthenic syndrome 10 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at