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NM_001278116.2(L1CAM):c.3458-1G>C AND X-linked hydrocephalus syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2011
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:
RCV000022879.4

Allele description [Variation Report for NM_001278116.2(L1CAM):c.3458-1G>C]

NM_001278116.2(L1CAM):c.3458-1G>C

Gene:
L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001278116.2(L1CAM):c.3458-1G>C
Other names:
L1CAM, IVS26AS, G-C, -1
HGVS:
  • NC_000023.11:g.153863550C>G
  • NG_009645.4:g.27624G>C
  • NG_147808.1:g.219C>G
  • NM_000425.5:c.3458-1G>C
  • NM_001143963.2:c.3443-1G>C
  • NM_001278116.2:c.3458-1G>CMANE SELECT
  • NM_024003.3:c.3458-1G>C
  • LRG_14t1:c.3458-1G>C
  • LRG_14t2:c.3458-1G>C
  • LRG_14:g.27624G>C
  • NC_000023.10:g.153129005C>G
  • NM_000425.4:c.3458-1G>C
Nucleotide change:
IVS26AS, G-C, -1
Links:
OMIM: 308840.0018; dbSNP: rs879253724
NCBI 1000 Genomes Browser:
rs879253724
Molecular consequence:
  • NM_000425.5:c.3458-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001143963.2:c.3443-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278116.2:c.3458-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_024003.3:c.3458-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
X-linked hydrocephalus syndrome (HYCX)
Synonyms:
Aqueductal stenosis, X-linked; X-linked hydrocephalus; HYDROCEPHALUS, CONGENITAL, X-LINKED; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010611; MedGen: C0265216; Orphanet: 2182; OMIM: 307000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044170OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Novel L1CAM splice site mutation in a young male with L1 syndrome.

Rehnberg M, Jonasson J, Gunnarsson C.

Am J Med Genet A. 2011 Feb;155A(2):439-41. doi: 10.1002/ajmg.a.33803. Epub 2010 Dec 22. No abstract available.

PubMed [citation]
PMID:
21271669

Details of each submission

From OMIM, SCV000044170.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Swedish boy with X-linked hydrocephalus, cognitive delay, and adducted thumbs (HYCX; 307000), Rehnberg et al. (2011) identified a hemizygous G-to-C transversion in intron 26 of the L1CAM gene (c.3458-1G-C), predicted to result in the deletion of exon 26 and a frameshift in exons 27 and 28. This would likely cause a loss of function of most of the cytoplasmic domain of the protein, which is a multifunctional region required for the initial protrusion of axons from the neuronal soma. Rehnberg et al. (2011) suggested that the mutation would disrupt cytoskeletal interactions. Family history was notable for 2 deceased maternal uncles with hydrocephalus, cognitive impairment, spastic paraplegia, and adducted thumbs. The mutation was also found in 3 female relatives of the proband, including his unaffected mother, maternal grandmother, and sister. Rehnberg et al. (2011) noted that the mother developed metastatic clear cell renal cell carcinoma (RCC; 144700) at age 46, and they speculated that the L1CAM mutation may have stimulated tumor migration and growth in this patient.

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

Last Updated: Aug 5, 2023