NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 17, 2024
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:: RCV000729705.7

Allele description [Variation Report for NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)]

NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)

Gene:

DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)

HGVS:

NC_000011.10:g.71435635G>A
NG_012655.2:g.17797C>T
NM_001163817.2:c.1168C>T
NM_001360.3:c.1168C>TMANE SELECT
NP_001157289.1:p.His390Tyr
NP_001351.2:p.His390Tyr
NP_001351.2:p.His390Tyr
LRG_340t1:c.1168C>T
LRG_340:g.17797C>T
LRG_340p1:p.His390Tyr
NC_000011.9:g.71146681G>A
NM_001360.2:c.1168C>T

Protein change:

H390Y

Links:

dbSNP: rs544442568

NCBI 1000 Genomes Browser:

rs544442568

Molecular consequence:

NM_001163817.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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pre-mRNA 3'-end-processing factor FIP1 isoform 2 [Homo sapiens]
pre-mRNA 3'-end-processing factor FIP1 isoform 2 [Homo sapiens]
gi|201023339|ref|NP_001128409.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000857391	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 24, 2018)	germline	clinical testing	Citation Link,
SCV001764727	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 17, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000857391

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jul 24, 2018)

germline

clinical testing

Citation Link,

SCV001764727

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 17, 2024)

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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000857391.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From GeneDx, SCV001764727.3

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

Description

Identified in the heterozygous state in an adult patient with cholestatic liver injury attributed to oral semaglutide; a second DHCR7 variant was not found in this patient (PMID: 36600793); Identified in the heterozygous state in one healthy control and no cases in a cohort of cases of uterine leiomyomas; a second DHCR7 variant was not found in this control (PMID: 35795205); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36600793, 35795205)

#	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

Last Updated: Oct 8, 2024

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