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_001963.6(EGF):c.3251C>G (p.Ala1084Gly)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000787277.3
Variation ID:
787277
Description:
single nucleotide variant
Help

NM_001963.6(EGF):c.3251C>G (p.Ala1084Gly)

Allele ID
709125
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q25
Genomic location
4: 110004582 (GRCh38) GRCh38 UCSC
4: 110925738 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.110925738C>G
NC_000004.12:g.110004582C>G
NM_001963.6:c.3251C>G MANE Select NP_001954.2:p.Ala1084Gly missense
... more HGVS
Protein change
A1084G, A1042G, A1043G, A961G
Other names
-
Canonical SPDI
NC_000004.12:110004581:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00469
The Genome Aggregation Database (gnomAD) 0.00414
1000 Genomes Project 0.00399
Trans-Omics for Precision Medicine (TOPMed) 0.00497
The Genome Aggregation Database (gnomAD), exomes 0.00103
Exome Aggregation Consortium (ExAC) 0.00134
Links
dbSNP: rs11569111
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000969482.2
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001145104.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001117004.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hypomagnesemia 4, renal
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001305745.1
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

Help
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

Help
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 rs11569111...

Help
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 Jun 27, 2020