NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Oct 1, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000997117.3

Allele description [Variation Report for NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)]

NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)

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.1358A>G (p.Asn453Ser)
HGVS:
  • NC_000002.12:g.38070996T>C
  • NG_008386.2:g.10106A>G
  • NM_000104.4:c.1358A>GMANE SELECT
  • NP_000095.2:p.Asn453Ser
  • NP_000095.2:p.Asn453Ser
  • NC_000002.11:g.38298139T>C
  • NM_000104.3:c.1358A>G
  • Q16678:p.Asn453Ser
Protein change:
N453S
Links:
UniProtKB: Q16678#VAR_008355; dbSNP: rs1800440
NCBI 1000 Genomes Browser:
rs1800440
Molecular consequence:
  • NM_000104.4:c.1358A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001152234CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Oct 1, 2016)
germlineclinical testing

Citation Link,

SCV001950519GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152234.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001950519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 15958554, 11854439, 15486049, 23861929, 10426814, 24604202)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

Support Center