GeneBe

NM_000261.2:c.604+3818_604+3819dupTT

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_000261.2(MYOC):​c.604+3818_604+3819dupTT 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 0.0000069 ( 0 hom., cov: 0)

Consequence

MYOC
NM_000261.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.297

Publications

1 publications found
Variant links:
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]
MYOC Gene-Disease associations (from GenCC):
  • glaucoma 1, open angle, A
    Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: G2P, Ambry Genetics, Labcorp Genetics (formerly Invitae)
  • juvenile open angle glaucoma
    Inheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: G2P, Orphanet
  • open-angle glaucoma
    Inheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
  • congenital glaucoma
    Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
MYOCNM_000261.2 linkc.604+3818_604+3819dupTT intron_variant Intron 1 of 2 ENST00000037502.11 NP_000252.1 Q99972A0A0S2Z421

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
MYOCENST00000037502.11 linkc.604+3819_604+3820insTT intron_variant Intron 1 of 2 1 NM_000261.2 ENSP00000037502.5 Q99972
MYOCENST00000638471.1 linkn.130+4293_130+4294insTT intron_variant Intron 1 of 3 5 ENSP00000491206.1 A0A1W2PP09

Frequencies

GnomAD3 genomes
AF:
0.00000691
AC:
1
AN:
144790
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.0000255
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00000691
AC:
1
AN:
144790
Hom.:
0
Cov.:
0
AF XY:
0.0000143
AC XY:
1
AN XY:
69884
show subpopulations
African (AFR)
AF:
0.0000255
AC:
1
AN:
39266
American (AMR)
AF:
0.00
AC:
0
AN:
14502
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
3414
East Asian (EAS)
AF:
0.00
AC:
0
AN:
4948
South Asian (SAS)
AF:
0.00
AC:
0
AN:
4514
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
8842
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
304
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
66142
Other (OTH)
AF:
0.00
AC:
0
AN:
1962
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.625
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
0.00
Hom.:
1013

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.30

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs11295938; hg19: chr1-171617328; API