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NM_206937.2(LIG4):c.1277_1281del (p.Glu426fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 20, 2017)
Last evaluated:
Sep 13, 2013
Accession:
VCV000433157.1
Variation ID:
433157
Description:
5bp microsatellite
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NM_206937.2(LIG4):c.1277_1281del (p.Glu426fs)

Allele ID
426725
Variant type
Microsatellite
Variant length
5 bp
Cytogenetic location
13q33.3
Genomic location
13: 108209988-108209992 (GRCh38) GRCh38 UCSC
13: 108862336-108862340 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.108862336CTCTT[1]
NC_000013.11:g.108209988CTCTT[1]
NM_206937.2:c.1277_1281del MANE Select NP_996820.1:p.Glu426fs frameshift
... more HGVS
Protein change
E426fs, E359fs, E438fs
Other names
-
Canonical SPDI
NC_000013.11:108209987:CTCTTCTCTT:CTCTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555305016
ClinGen: CA645372990
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 13, 2013 RCV000498589.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LIG4 - - GRCh38
GRCh37
284 381

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 13, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000590844.1
Submitted: (Jan 20, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555305016...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 28, 2021