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NM_005343.4(HRAS):c.484G>A (p.Glu162Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 5, 2021)
Last evaluated:
Sep 3, 2020
Accession:
VCV001034833.3
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
Nucleotide Protein Molecular
consequence
NC_000011.10:g.532722C>T
NC_000011.9:g.532722C>T
NG_007666.1:g.7829G>A
... more HGVS
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 Sep 3, 2020 RCV001337613.1
Uncertain significance 1 criteria provided, single submitter Jul 13, 2020 RCV001550317.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HRAS No evidence available No evidence available GRCh38
GRCh38
GRCh37
8 410
LRRC56 - - GRCh38
GRCh38
GRCh37
32 437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
Costello syndrome
Allele origin: germline
Invitae
Accession: SCV001531220.1
Submitted: (Jan 07, 2021)
Evidence details
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)
Uncertain significance
(Jul 13, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001770627.1
Submitted: (Aug 05, 2021)
Evidence details
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)

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 rs1564787942...

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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 Nov 27, 2021