Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 4, 2011)
Last evaluated:
Feb 1, 2011
Accession:
VCV000029986.1
Variation ID:
29986
Description:
single nucleotide variant
Help

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

Allele ID
38941
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153863550 (GRCh38) GRCh38 UCSC
X: 153129005 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153129005C>G
NC_000023.11:g.153863550C>G
NM_001143963.2:c.3443-1G>C splice acceptor
... more HGVS
Protein change
-
Other names
L1CAM, IVS26AS, G-C, -1
IVS26AS, G-C, -1
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575545
OMIM: 308840.0018
dbSNP: rs879253724
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2011 RCV000022879.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
L1CAM Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
250 478

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2011)
no assertion criteria provided
Method: literature only
HYDROCEPHALUS, X-LINKED
Allele origin: germline
OMIM
Accession: SCV000044170.2
Submitted: (Oct 04, 2011)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Novel L1CAM splice site mutation in a young male with L1 syndrome. Rehnberg M American journal of medical genetics. Part A 2011 PMID: 21271669

Record last updated Oct 27, 2019