chr11:534289:C>G Detail (hg19) (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	chr11:534,289-534,289
hg38	chr11:534,289-534,289 View the variant detail on this assembly version.

HGVS

HRAS

Type	Transcript	Protein
RefSeq	NM_176795.4:c.34G>C	NP_789765.1:p.Gly12Arg
	NM_001130442.2:c.34G>C	NP_001123914.1:p.Gly12Arg
	NM_005343.3:c.34G>C	NP_005334.1:p.Gly12Arg
	NM_001318054.1:c.34G>C	NP_001304983.1:p.Gly12Arg
Ensemble	ENST00000417302.7:c.34G>C	ENST00000417302.7:p.Gly12Arg
	ENST00000397596.6:c.34G>C	ENST00000397596.6:p.Gly12Arg
	ENST00000311189.8:c.34G>C	ENST00000311189.8:p.Gly12Arg
	ENST00000451590.5:c.34G>C	ENST00000451590.5:p.Gly12Arg
	ENST00000397594.7:c.34G>C	ENST00000397594.7:p.Gly12Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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	COSM3931342	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	Thyroid tumor	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2022-04-25	criteria provided, single submitter	Costello syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.455	Costello syndrome (disorder)	We have observed unusual transverse distal phalangeal creases in two patients, o...	BeFree	17324647	Detail
0.455	Costello syndrome (disorder)	Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.	BeFree	16881968	Detail
0.122	Costello syndrome (disorder)	We have observed unusual transverse distal phalangeal creases in two patients, o...	BeFree	17324647	Detail
0.265	Noonan syndrome	We have observed unusual transverse distal phalangeal creases in two patients, o...	BeFree	17324647	Detail
0.455	Costello syndrome (disorder)	Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.	BeFree	20979192	Detail
0.455	Costello syndrome (disorder)	Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inhe...	BeFree	19206176	Detail
0.121	Noonan syndrome	We have observed unusual transverse distal phalangeal creases in two patients, o...	BeFree	17324647	Detail
0.455	Costello syndrome (disorder)	Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.	BeFree	21834037	Detail
0.121	Cardio-facio-cutaneous syndrome	We have observed unusual transverse distal phalangeal creases in two patients, o...	BeFree	17324647	Detail
0.455	Costello syndrome (disorder)	Two cases with severe lethal course of Costello syndrome associated with HRAS p....	BeFree	22926243	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) AND Thyroid tumor	ClinVar	Detail
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) AND Neoplasm of the large intestine	ClinVar	Detail
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) AND Costello syndrome	ClinVar	Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn...	DisGeNET	Detail
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.	DisGeNET	Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn...	DisGeNET	Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn...	DisGeNET	Detail
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.	DisGeNET	Detail
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father ...	DisGeNET	Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn...	DisGeNET	Detail
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.	DisGeNET	Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn...	DisGeNET	Detail
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.	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: rs104894229 dbSNP
Genome: hg19
Position: chr11:534,289-534,289
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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