1-171648188-TAAA-TA
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
The NM_000261.2(MYOC):c.604+3818_604+3819delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0089 ( 14 hom., cov: 0)
Consequence
MYOC
NM_000261.2 intron
NM_000261.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.329
Genes affected
MYOC (HGNC:7610): (myocilin) MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BS1
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00889 (1285/144602) while in subpopulation AFR AF= 0.0219 (861/39296). AF 95% confidence interval is 0.0207. There are 14 homozygotes in gnomad4. There are 635 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 14 AD,AR,Digenic gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYOC | NM_000261.2 | c.604+3818_604+3819delTT | intron_variant | ENST00000037502.11 | NP_000252.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYOC | ENST00000037502.11 | c.604+3818_604+3819delTT | intron_variant | 1 | NM_000261.2 | ENSP00000037502.5 | ||||
MYOC | ENST00000638471.1 | n.130+4292_130+4293delTT | intron_variant | 5 | ENSP00000491206.1 |
Frequencies
GnomAD3 genomes AF: 0.00883 AC: 1277AN: 144568Hom.: 14 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.00889 AC: 1285AN: 144602Hom.: 14 Cov.: 0 AF XY: 0.00910 AC XY: 635AN XY: 69814
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at