Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in this gene are commonly considered pathogenic (Stenson et al., 2014)
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 2
- First in ClinVar:
- Mar 22, 2021
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Aug 31, 2021
- Accession:
- VCV001034833.8
- Variation ID:
- 1034833
- Description:
- single nucleotide variant
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NM_005343.4(HRAS):c.484G>A (p.Glu162Lys)
- Allele ID
- 1030300
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 11p15.5
- Genomic location
- 11: 532722 (GRCh38) GRCh38 UCSC
- 11: 532722 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_005343.4:c.484G>A MANE Select NP_005334.1:p.Glu162Lys missense NM_176795.5:c.*53G>A MANE Plus Clinical 3 prime UTR NM_001130442.3:c.484G>A NP_001123914.1:p.Glu162Lys missense NM_001318054.2:c.247G>A NP_001304983.1:p.Glu83Lys missense NC_000011.10:g.532722C>T NC_000011.9:g.532722C>T NG_007666.1:g.7829G>A LRG_506:g.7829G>A LRG_506t1:c.484G>A LRG_506p1:p.Glu162Lys - Protein change
- E162K, E83K
- Other names
- -
- Canonical SPDI
- NC_000011.10:532721:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD), exomes 0.00000
- Links
- dbSNP: rs1564787942
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Aug 31, 2021 | RCV001337613.5 | |
| Uncertain significance | 1 | criteria provided, single submitter | Jul 13, 2020 | RCV001550317.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Jul 13, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001770627.1
First in ClinVar: Aug 07, 2021 Last updated: Aug 07, 2021 |
Comment:
Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious … (more)
Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in this gene are commonly considered pathogenic (Stenson et al., 2014) (less)
|
|
|
Uncertain significance
(Aug 31, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Costello syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001531220.3
First in ClinVar: Mar 22, 2021 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces glutamic acid with lysine at codon 162 of the HRAS protein (p.Glu162Lys). The glutamic acid residue is highly conserved and there … (more)
This sequence change replaces glutamic acid with lysine at codon 162 of the HRAS protein (p.Glu162Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HRAS protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
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 rs1564787942...
HelpThese 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 Mar 26, 2023