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NM_000104.4(CYP1B1):c.1294= (p.Leu432=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 11, 2021)
Last evaluated:
Jul 30, 2021
Accession:
VCV000166971.10
Variation ID:
166971
Description:
single nucleotide variant
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NM_000104.4(CYP1B1):c.1294= (p.Leu432=)

Allele ID
177658
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
2p22.2
Genomic location
2: 38071060 (GRCh38) GRCh38 UCSC
2: 38298203 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.38298203C>G
NC_000002.12:g.38071060=
NG_008386.2:g.10042=
NM_000104.4:c.1294= MANE Select NP_000095.2:p.Leu432=
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:38071059:G:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.49810
Trans-Omics for Precision Medicine (TOPMed) 0.49666
The Genome Aggregation Database (gnomAD) 0.48746
Links
PharmGKB Clinical Annotation: 655384573
ClinGen: CA179949
dbSNP: rs1056836
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 5, 2013 RCV000153126.2
Likely benign 1 criteria provided, single submitter Oct 1, 2016 RCV000997118.2
Benign 1 criteria provided, single submitter Jul 30, 2021 RCV001657871.1
Benign 1 criteria provided, single submitter Nov 18, 2020 RCV001521681.1
Benign 1 criteria provided, single submitter Jul 30, 2021 RCV001657872.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP1B1 - - GRCh38
GRCh37
170 242

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 05, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202586.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital glaucoma
Allele origin: germline
Invitae
Accession: SCV001731067.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Anterior segment dysgenesis 6
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001876483.1
Submitted: (Sep 11, 2021)
Evidence details
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Glaucoma 3, primary congenital, A
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001876485.1
Submitted: (Sep 11, 2021)
Evidence details
Likely benign
(Oct 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152235.7
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP1B1 - - - -

Text-mined citations for rs1056836...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021