chr11:534288:C>T Detail (hg38) (HRAS, LRRC56)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:534,288-534,288 View the variant detail on this assembly version.
hg38	chr11:534,288-534,288

HGVS

HRAS

Type	Transcript	Protein
RefSeq	NM_001318054.1:c.35G>A	NP_001304983.1:p.Gly12Asp
	NM_176795.4:c.35G>A	NP_789765.1:p.Gly12Asp
	NM_001130442.2:c.35G>A	NP_001123914.1:p.Gly12Asp
	NM_005343.3:c.35G>A	NP_005334.1:p.Gly12Asp
Ensemble	ENST00000311189.8:c.35G>A	ENST00000311189.8:p.Gly12Asp
	ENST00000397594.7:c.35G>A	ENST00000397594.7:p.Gly12Asp
	ENST00000397596.6:c.35G>A	ENST00000397596.6:p.Gly12Asp
	ENST00000417302.7:c.35G>A	ENST00000417302.7:p.Gly12Asp
	ENST00000451590.5:c.35G>A	ENST00000451590.5:p.Gly12Asp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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Links

HRAS

Type	Database	ID	Link
Gene	MIM	190020	OMIM
	HGNC	5173	HGNC
	Ensembl	ENSG00000174775	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM99915	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-06-10	no assertion criteria provided	Costello syndrome, severe	unknown	Detail
Pathogenic	2012-06-10	no assertion criteria provided		somatic	Detail
Pathogenic	2021-10-02	criteria provided, multiple submitters, no conflicts	Costello syndrome	germline	Detail
Pathogenic	2017-10-30	criteria provided, single submitter	RASopathy	germline unknown	Detail
Pathogenic	2019-05-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Breast neoplasm	somatic	Detail
Pathogenic	2019-04-30	no assertion criteria provided	Lip and oral cavity carcinoma	somatic	Detail
Pathogenic	2020-04-30	criteria provided, single submitter	Non-immune hydrops fetalis	de novo	Detail
Likely pathogenic	2017-07-06	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	thymoma	One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res...	BeFree	19861435	Detail
<0.001	thymic carcinoma	One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res...	BeFree	19861435	Detail
<0.001	thymoma	One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res...	BeFree	19861435	Detail
<0.001	Thymoma, type C	One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res...	BeFree	19861435	Detail
0.455	Costello syndrome (disorder)	Two cases with severe lethal course of Costello syndrome associated with HRAS p....	BeFree	22926243	Detail
0.017	Carcinogenesis	We found that TRAIL expression is consistently downregulated in HRAS(G12V)-trans...	BeFree	21697397	Detail
<0.001	Immunologic Deficiency Syndromes	Primary human and bovine adrenocortical cells were transduced with retroviruses ...	BeFree	15342398	Detail
0.003	Carcinogenesis	We found that TRAIL expression is consistently downregulated in HRAS(G12V)-trans...	BeFree	21697397	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Costello syndrome, severe	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Nevus sebaceous	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Costello syndrome	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND RASopathy	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND not provided	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Breast neoplasm	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Lip and oral cavity carcinoma	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Non-immune hydrops fetalis	ClinVar	Detail
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ...	DisGeNET	Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ...	DisGeNET	Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ...	DisGeNET	Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ...	DisGeNET	Detail
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.	DisGeNET	Detail
We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in step...	DisGeNET	Detail
Primary human and bovine adrenocortical cells were transduced with retroviruses encoding Ha-Ras(G12V...	DisGeNET	Detail
We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in step...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs104894230 dbSNP
Genome: hg38
Position: chr11:534,288-534,288
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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