NM_000104.4(CYP1B1):c.1147G>A (p.Ala383Thr) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV004556156.1

Allele description [Variation Report for NM_000104.4(CYP1B1):c.1147G>A (p.Ala383Thr)]

NM_000104.4(CYP1B1):c.1147G>A (p.Ala383Thr)

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.1147G>A (p.Ala383Thr)

HGVS:

NC_000002.12:g.38071207C>T
NG_008386.2:g.9895G>A
NM_000104.4:c.1147G>AMANE SELECT
NP_000095.2:p.Ala383Thr
NC_000002.11:g.38298350C>T

Protein change:

A383T

Molecular consequence:

NM_000104.4:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Name:: Anterior segment dysgenesis 6 (ASGD6)
Synonyms:: Anterior segment dysgenesis 6, multiple subtypes
Identifiers:: MONDO: MONDO:0015016; MedGen: C4310623; OMIM: 617315

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005045199	Moosajee Lab, UCL Institute of Ophthalmology - Genomics England 100,000 Genomes Project	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005045199

Moosajee Lab, UCL Institute of Ophthalmology - Genomics England 100,000 Genomes Project

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

paternal

clinical testing

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
White British	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Moosajee Lab, UCL Institute of Ophthalmology - Genomics England 100,000 Genomes Project, SCV005045199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White British	1	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has been inherited in a compound heterozygous manner with the variant NM_000104.4:c.171G>A

#	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		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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