NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys) AND Smith-Lemli-Opitz syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 17, 2018
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:: RCV000674641.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)]

NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)

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.1426T>A (p.Ter476Lys)

Other names:

*476K

HGVS:

NC_000011.10:g.71435377A>T
NG_012655.2:g.18055T>A
NM_001163817.2:c.1426T>A
NM_001360.3:c.1426T>AMANE SELECT
NP_001157289.1:p.Ter476Lys
NP_001351.2:p.Ter476Lys
NP_001351.2:p.Ter476Lys
LRG_340t1:c.1426T>A
LRG_340:g.18055T>A
LRG_340p1:p.Ter476Lys
NC_000011.9:g.71146423A>T
NM_001360.2:c.1426T>A

Links:

dbSNP: rs775034584

NCBI 1000 Genomes Browser:

rs775034584

Molecular consequence:

NM_001163817.2:c.1426T>A - stop lost - [Sequence Ontology: SO:0001578]
NM_001360.3:c.1426T>A - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: Smith-Lemli-Opitz syndrome (SLOS)
Synonyms:: LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800011	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (May 17, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800011

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(May 17, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000800011.1

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

Last Updated: Apr 23, 2022

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