U.S. flag

An official website of the United States government

NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) AND Irido-corneo-trabecular dysgenesis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001137457.4

Allele description [Variation Report for NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)]

NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)

Gene:
CYP1B1:cytochrome P450 family 1 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.2
Genomic location:
Preferred name:
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)
HGVS:
  • NC_000002.12:g.38075070G>C
  • NG_008386.2:g.6032C>G
  • NM_000104.4:c.319C>GMANE SELECT
  • NP_000095.2:p.Leu107Val
  • NP_000095.2:p.Leu107Val
  • NC_000002.11:g.38302213G>C
  • NM_000104.3:c.319C>G
Protein change:
L107V
Links:
dbSNP: rs56339482
NCBI 1000 Genomes Browser:
rs56339482
Molecular consequence:
  • NM_000104.4:c.319C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Irido-corneo-trabecular dysgenesis (ASGD5)
Synonyms:
ANTERIOR SEGMENT DYSGENESIS 5
Identifiers:
MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001297395Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma.

Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, Sun X.

Arch Ophthalmol. 2008 Oct;126(10):1443-7. doi: 10.1001/archopht.126.10.1443.

PubMed [citation]
PMID:
18852424

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001297395.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024