NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) AND Congenital ocular coloboma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2012
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:: RCV000059337.10

Allele description [Variation Report for NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)]

NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)

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.241T>A (p.Tyr81Asn)

HGVS:

NC_000002.12:g.38075148A>T
NG_008386.2:g.5954T>A
NM_000104.4:c.241T>AMANE SELECT
NP_000095.2:p.Tyr81Asn
NP_000095.2:p.Tyr81Asn
NC_000002.11:g.38302291A>T
NM_000104.3:c.241T>A
Q16678:p.Tyr81Asn

Protein change:

Y81N; TYR81ASN

Links:

UniProtKB: Q16678#VAR_028736; OMIM: 601771.0017; dbSNP: rs9282671

NCBI 1000 Genomes Browser:

rs9282671

Molecular consequence:

NM_000104.4:c.241T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital ocular coloboma
Synonyms:: COLOBOMA OF IRIS, CHOROID, AND RETINA; COLOBOMA, UVEORETINAL; Coloboma of eye; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0001476; MedGen: C0009363; Orphanet: 194; Human Phenotype Ontology: HP:0000589

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087416	Eye Genetics Research Group, Children's Medical Research Institute	no assertion criteria provided	Uncertain significance (Mar 30, 2012)	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087416

Eye Genetics Research Group, Children's Medical Research Institute

no assertion criteria provided

Uncertain significance
(Mar 30, 2012)

paternal

research

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	paternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV.

Eur J Hum Genet. 2014 Jul;22(7):907-15. doi: 10.1038/ejhg.2013.268. Epub 2013 Nov 27.

PubMed [citation]

PMID:: 24281366
PMCID:: PMC4060118

Details of each submission

From Eye Genetics Research Group, Children's Medical Research Institute, SCV000087416.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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