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NM_000118.3(ENG):c.1455G>A (p.Glu485=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV000385734.4
Variation ID:
385734
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1455G>A (p.Glu485=)

Allele ID
369766
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127818351 (GRCh38) GRCh38 UCSC
9: 130580630 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.127818351C>T
NC_000009.11:g.130580630C>T
NM_000118.3:c.1455G>A NP_000109.1:p.Glu485= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127818350:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00057
Exome Aggregation Consortium (ExAC) 0.00024
The Genome Aggregation Database (gnomAD) 0.00038
The Genome Aggregation Database (gnomAD), exomes 0.00017
1000 Genomes Project 0.00240
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Links
ClinGen: CA5252754
dbSNP: rs150456852
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 Apr 25, 2016 RCV000438842.1
Benign 1 criteria provided, single submitter May 17, 2017 RCV000756085.3
Benign 1 criteria provided, single submitter Oct 7, 2020 RCV001088945.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
589 879
LOC102723566 - - - GRCh38 - 266

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527105.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(May 17, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000883801.1
Submitted: (Oct 10, 2018)
Evidence details
Benign
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000754366.4
Submitted: (Jan 07, 2021)
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 rs150456852...

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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 Jun 14, 2021