Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Link to SEPIO compliant JSON-LD document
  • No ClinVar Id was directly found from the curated document
  • 'cspec' property is found but contains no ID!
  • See Evidence submitted by expert panel for details.

Variant: NM_000261.2:c.24C>A

CA343720163

Gene: MYOC
Condition: juvenile open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 2e0b9ef0-1ce4-40b1-bccb-1bc29d978a54

HGVS expressions

NM_000261.2:c.24C>A
NC_000001.11:g.171652588G>T
CM000663.2:g.171652588G>T
NC_000001.10:g.171621728G>T
CM000663.1:g.171621728G>T
NC_000001.9:g.169888351G>T
NG_008859.1:g.5046C>A
ENST00000037502.11:c.24C>A
ENST00000638471.1:c.24C>A
ENST00000037502.10:c.24C>A
ENST00000614688.1:c.24C>A
NM_000261.1:c.24C>A

Uncertain Significance

Met criteria codes 2
PS4_Supporting PM2_Supporting
Not Met criteria codes 13
PS2 PS1 PS3 PP1 PP3 PM5 PM4 PM6 BA1 BS3 BS1 BP4 BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Glaucoma VCEP
The c.24C>A variant in MYOC is predicted to cause a change in the length of the protein due to the insertion of a terminating codon instead of the usual Cysteine at amino acid 8. Truncation of this protein occurs outside of the conserved olfactomedin domain, which did not meet PM4. This variant was not found in any population of gnomAD (v2.1.1), meeting the ≤ 0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. 2 probands with juvenile open angle glaucoma have been reported carrying this variant (PMID: 18385784), which met PS4_Supporting (≥ 2 probands). In summary, this variant met the criteria to receive a score of 2 and to be classified as a variant of uncertain significance (uncertain significance classification range -1 to 5) for juvenile open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PS4_Supporting, PM2_Supporting.
Met criteria codes
PS4_Supporting
2 probands with JOAG have been reported carrying this variant (PMID: 18385784), which met PS4_Supporting (≥ 2 probands).
PM2_Supporting
This variant was not found in any population of gnomAD (v2.1.1), meeting the ≤ 0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles.
Not Met criteria codes
PS2
This variant has not been identified de novo.
PS1
This variant does not involve an amino acid change.
PS3
No functional evidence has been found for this variant.
PP1
No segregations have been reported for this variant.
PP3
This is not a missense variant.
PM5
This is not a missense variant.
PM4
Truncation of this protein occurs outside of the conserved olfactomedin domain, which did not meet PM4.
PM6
This variant has not been identified de novo.
BA1
This criterion was not met as PM2_Supporting has been met.
BS3
No functional evidence has been found for this variant.
BS1
This criterion was not met as PM2_Supporting has been met.
BP4
This is not a missense, synonymous or non-coding variant.
BP7
This is not a synonymous or non-coding variant.
Approved on: 2022-08-28
Published on: 2022-08-28
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.