NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000766838.28

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000616696	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 30, 2021)	germline	clinical testing	Citation Link,
SCV001152237	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jul 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000616696

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 30, 2021)

germline

clinical testing

Citation Link,

SCV001152237

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Jul 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000616696.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Identified in patients with primary congenital glaucoma, primary open-angle glaucoma, coloboma and micropthalmia, but many of these patients were not observed to harbor a second variant in CYP1B1, and Y81N did not segregate with disease in some families. (Melki et al., 2004; Mill et al., 2013; Prokudin et al., 2014; Reis et al., 2016; Rauf et al., 2016); Published functional studies demonstrate a reduction in enzyme activity compared to the wild type (Choudhary et al., 2008; Banerjee et al., 2016); This variant is associated with the following publications: (PMID: 19793111, 27508083, 22004014, 19204079, 19643970, 19234632, 27243976, 27820421, 25646030, 27777502, 23922489, 24281366, 16862072, 18470941, 15342693, 18622259)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001152237.22

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

CYP1B1: PM3, PM2:Supporting, PS3:Supporting

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

Last Updated: Oct 26, 2024

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