NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs) AND Smith-Lemli-Opitz syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 16, 2016
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:: RCV000410733.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs)]

NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs)

HGVS:

NC_000011.10:g.71435723_71435724del
NG_012655.2:g.17709_17710del
NM_001163817.2:c.1080_1081del
NM_001360.3:c.1080_1081delMANE SELECT
NP_001157289.1:p.Phe361fs
NP_001351.2:p.Phe361fs
LRG_340:g.17709_17710del
NC_000011.9:g.71146769_71146770del
NM_001360.2:c.1080_1081delGT

Protein change:

F361fs

Links:

dbSNP: rs1057516517

NCBI 1000 Genomes Browser:

rs1057516517

Molecular consequence:

NM_001163817.2:c.1080_1081del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001360.3:c.1080_1081del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000485810	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 16, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485810

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Feb 16, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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, SCV000485810.2

#	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: Sep 1, 2024

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