NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 10, 2021
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:: RCV001819896.4

Allele description [Variation Report for NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)]

NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)

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.1218C>G (p.Phe406Leu)

HGVS:

NC_000011.10:g.71435585G>C
NG_012655.2:g.17847C>G
NM_001163817.2:c.1218C>G
NM_001360.3:c.1218C>GMANE SELECT
NP_001157289.1:p.Phe406Leu
NP_001351.2:p.Phe406Leu
LRG_340t1:c.1218C>G
LRG_340:g.17847C>G
NC_000011.9:g.71146631G>C
NC_000011.9:g.71146631G>C
NM_001360.2:c.1218C>G

Protein change:

F406L

Links:

dbSNP: rs1949268068

NCBI 1000 Genomes Browser:

rs1949268068

Molecular consequence:

NM_001163817.2:c.1218C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001360.3:c.1218C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002065766	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002065766

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 10, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002065766.1

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

Description

DNA sequence analysis of the DHCR7 gene demonstrated a sequence change, c.1218C>G, in exon 9 that results in an amino acid change, p.Phe406Leu. This sequence change does not appear to have been previously described in individuals with DHCR7-related disorders and has also not been described in the population databases such as ExAC and gnomAD. The p.Phe406Leu change affects a moderately conserved amino acid residue located in a domain of the DHCR7 protein that is known to be functional. The p.Phe406Leu substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Phe406Leu change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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