NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) AND Irido-corneo-trabecular dysgenesis

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 22, 2023
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:: RCV000986620.3

Allele description [Variation Report for NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)]

NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)

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.685G>A (p.Glu229Lys)

HGVS:

NC_000002.12:g.38074704C>T
NG_008386.2:g.6398G>A
NM_000104.4:c.685G>AMANE SELECT
NP_000095.2:p.Glu229Lys
NP_000095.2:p.Glu229Lys
NC_000002.11:g.38301847C>T
NM_000104.3:c.685G>A
Q16678:p.Glu229Lys

Protein change:

E229K

Links:

UniProtKB: Q16678#VAR_054243; dbSNP: rs57865060

NCBI 1000 Genomes Browser:

rs57865060

Molecular consequence:

NM_000104.4:c.685G>A - 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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001135662	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Benign (Aug 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001135662

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Benign
(Aug 22, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001135662.2

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine