NM_002340.6(LSS):c.857A>G (p.Tyr286Cys) AND Hypotrichosis 14

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001663398.1

Allele description [Variation Report for NM_002340.6(LSS):c.857A>G (p.Tyr286Cys)]

NM_002340.6(LSS):c.857A>G (p.Tyr286Cys)

Gene:

LSS:lanosterol synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_002340.6(LSS):c.857A>G (p.Tyr286Cys)

HGVS:

NC_000021.9:g.46215720T>C
NG_011510.1:g.18105A>G
NM_001001438.3:c.857A>G
NM_001145436.2:c.824A>G
NM_001145437.2:c.617A>G
NM_002340.6:c.857A>GMANE SELECT
NP_001001438.1:p.Tyr286Cys
NP_001138908.1:p.Tyr275Cys
NP_001138909.1:p.Tyr206Cys
NP_002331.3:p.Tyr286Cys
NC_000021.8:g.47635634T>C
NM_001145437.1:c.617A>G
NM_002340.5:c.857A>G

Protein change:

Y206C

Links:

dbSNP: rs987857709

NCBI 1000 Genomes Browser:

rs987857709

Molecular consequence:

NM_001001438.3:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001145436.2:c.824A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001145437.2:c.617A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002340.6:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypotrichosis 14
Identifiers:: MONDO: MONDO:0032649; MedGen: C4748930; OMIM: 618275

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001879320	Bruce Lefroy Centre, Murdoch Childrens Research Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001879320

Bruce Lefroy Centre, Murdoch Childrens Research Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

maternal

research

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	maternal	yes	1	1	not provided	not provided	not provided	research

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 Bruce Lefroy Centre, Murdoch Childrens Research Institute, SCV001879320.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Oct 8, 2024

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