NM_000104.4(CYP1B1):c.1044-3C>G AND Glaucoma 3A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001250445.1

Allele description [Variation Report for NM_000104.4(CYP1B1):c.1044-3C>G]

NM_000104.4(CYP1B1):c.1044-3C>G

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.1044-3C>G

HGVS:

NC_000002.12:g.38071313G>C
NG_008386.2:g.9789C>G
NM_000104.4:c.1044-3C>GMANE SELECT
NC_000002.11:g.38298456G>C
NM_000104.3:c.1044-3C>G

Links:

dbSNP: rs761216127

NCBI 1000 Genomes Browser:

rs761216127

Molecular consequence:

NM_000104.4:c.1044-3C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Glaucoma 3A
Synonyms:: Glaucoma 3, primary congenital, A
Identifiers:: MONDO: MONDO:0009277; MedGen: C1856439; Orphanet: 98976; Orphanet: 98977; OMIM: 231300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424833	Institute of Medical Molecular Genetics, University of Zurich	no assertion criteria provided	Pathogenic (Aug 1, 2019)	maternal, paternal, unknown, not applicable	research, in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001424833

Institute of Medical Molecular Genetics, University of Zurich

no assertion criteria provided

Pathogenic
(Aug 1, 2019)

maternal, paternal, unknown, not applicable

research, in vitro

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	unknown	no	1	not provided	not provided	1	yes	research

Citations

PubMed

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Lang E, Koller S, Bähr L, Töteberg-Harms M, Atac D, Roulez F, Bahr A, Steindl K, Feil S, Berger W, Gerth-Kahlert C.

Transl Vis Sci Technol. 2020 Jun;9(7):47. doi: 10.1167/tvst.9.7.47.

PubMed [citation]

PMID:: 32832252
PMCID:: PMC7414719

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001424833.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	research	PubMed (1)
2	not provided	1	not provided	yes	research	PubMed (1)
3	not provided	1	not provided	yes	research	PubMed (1)
4	not provided	1	not provided	yes	research	PubMed (1)
5	not provided	1	not provided	yes	research	PubMed (1)
6	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	maternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
4	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided
5	unknown	no	1	not provided	not provided		1	not provided	not provided	not provided
6	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 8, 2022

ClinVar

Relating variation to medicine