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NM_001963.6(EGF):c.2362C>T (p.Leu788=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Sep 14, 2018
Accession:
VCV000739998.2
Variation ID:
739998
Description:
single nucleotide variant
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NM_001963.6(EGF):c.2362C>T (p.Leu788=)

Allele ID
748667
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q25
Genomic location
4: 109980966 (GRCh38) GRCh38 UCSC
4: 110902122 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.110902122C>T
NC_000004.12:g.109980966C>T
NM_001963.6:c.2362C>T MANE Select NP_001954.2:p.Leu788= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:109980965:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
dbSNP: rs376855018
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 14, 2018 RCV000916028.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001147855.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGF - - GRCh38
GRCh37
240 251

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001061258.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hypomagnesemia 4, renal
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001308707.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

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 rs376855018...

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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 Jul 27, 2020