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NM_002340.6(LSS):c.1194+5G>A AND Alopecia-intellectual disability syndrome 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001034702.2

Allele description [Variation Report for NM_002340.6(LSS):c.1194+5G>A]

NM_002340.6(LSS):c.1194+5G>A

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.1194+5G>A
HGVS:
  • NC_000021.9:g.46210683C>T
  • NG_011510.1:g.23142G>A
  • NM_001001438.2:c.1194+5G>A
  • NM_001001438.3:c.1194+5G>A
  • NM_001145436.2:c.1161+5G>A
  • NM_001145437.2:c.954+5G>A
  • NM_002340.6:c.1194+5G>AMANE SELECT
  • NC_000021.8:g.47630597C>T
  • NM_002340.5:c.1194+5G>A
Nucleotide change:
IVS12, G-A, +5
Links:
OMIM: 600909.0013; dbSNP: rs748758448
NCBI 1000 Genomes Browser:
rs748758448
Molecular consequence:
  • NM_001001438.3:c.1194+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145436.2:c.1161+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145437.2:c.954+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002340.6:c.1194+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Alopecia-intellectual disability syndrome 4
Synonyms:
ALOPECIA-MENTAL RETARDATION SYNDROME 4
Identifiers:
MONDO: MONDO:0030009; MedGen: C5394241; OMIM: 618840

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001197991OMIM
no assertion criteria provided
Pathogenic
(Feb 10, 2022) 		germlineliterature only

Besnard, T., Sloboda, N., Goldenberg, A., Kury, S., Cogne, B., Breheret, F., Trochu, E., Conrad, S., Vincent, M., Deb, W., Balguerie, X., Barbarot, S., and 27 others Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Genet. Med. 21: 2025-2035, 2019.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV001197991.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

For discussion of the splicing mutation (c.1194+5G-A, NM_002340.5) in intron 12 of the LSS gene, causing skipping of exon 12, that was found in compound heterozygous state in a Turkish brother and sister (family 2) with complete alopecia and psychomotor retardation (APMR4; 618840) by Besnard et al. (2019), see 600909.0012.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025