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NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) AND X-linked hydrocephalus syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 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:
RCV000211546.1

Allele description [Variation Report for NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)]

NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)

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.2380C>T (p.Gln794Ter)
HGVS:
  • NC_000023.11:g.153866700G>A
  • NG_009645.3:g.47524C>T
  • NM_000425.5:c.2380C>T
  • NM_001143963.2:c.2365C>T
  • NM_001278116.2:c.2380C>TMANE SELECT
  • NM_024003.3:c.2380C>T
  • NP_000416.1:p.Gln794Ter
  • NP_001137435.1:p.Gln789Ter
  • NP_001265045.1:p.Gln794Ter
  • NP_076493.1:p.Gln794Ter
  • LRG_14t1:c.2380C>T
  • LRG_14t2:c.2380C>T
  • LRG_14p1:p.Gln794Ter
  • LRG_14p2:p.Gln794Ter
  • NC_000023.10:g.153132155G>A
  • NM_000425.4:c.2380C>T
  • p.Glu794*
Protein change:
Q789*
Links:
dbSNP: rs875989884
NCBI 1000 Genomes Browser:
rs875989884
Molecular consequence:
  • NM_000425.5:c.2380C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001143963.2:c.2365C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278116.2:c.2380C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024003.3:c.2380C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000268523Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 5, 2016) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000268523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The L1CAM pathogenic mutation was observed in a patient with hydrocephalus due to aqueductal stenosis.

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

Last Updated: Dec 2, 2023