NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2022
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:: RCV004027065.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)]

NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)

Gene:

CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)

HGVS:

NC_000002.12:g.218814031C>T
NG_007959.1:g.37283C>T
NM_000784.3:c.1028C>T
NM_000784.4:c.1028C>TMANE SELECT
NP_000775.1:p.Thr343Met
NC_000002.11:g.219678754C>T

Protein change:

T343M

Links:

dbSNP: rs372194079

NCBI 1000 Genomes Browser:

rs372194079

Molecular consequence:

NM_000784.4:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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PREDICTED: Homo sapiens eukaryotic translation initiation factor 4 gamma 3 (EIF4...
PREDICTED: Homo sapiens eukaryotic translation initiation factor 4 gamma 3 (EIF4G3), transcript variant X34, mRNA
gi|2462514934|ref|XM_054339389.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003711386	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003711386

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 17, 2022)

germline

clinical testing

Citation Link

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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 Ambry Genetics, SCV003711386.2

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

Description

The c.1028C>T (p.T343M) alteration is located in exon 6 (coding exon 6) of the CYP27A1 gene. This alteration results from a C to T substitution at nucleotide position 1028, causing the threonine (T) at amino acid position 343 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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