NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) AND Vascular Tumors Including Pyogenic Granuloma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 19, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000662268.1

Allele description [Variation Report for NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)]

NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)

Genes:

HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)

Other names:

p.Q61R:CAG>CGG

HGVS:

NC_000011.10:g.533874T>C
NG_007666.1:g.6677A>G
NM_001130442.3:c.182A>G
NM_001318054.2:c.-138A>G
NM_005343.4:c.182A>GMANE SELECT
NM_176795.5:c.182A>G
NP_001123914.1:p.Gln61Arg
NP_005334.1:p.Gln61Arg
NP_789765.1:p.Gln61Arg
NP_789765.1:p.Gln61Arg
LRG_506t1:c.182A>G
LRG_506:g.6677A>G
LRG_506p1:p.Gln61Arg
NC_000011.9:g.533874T>C
NM_005343.2:c.182A>G
NM_005343.3:c.182A>G
NM_176795.4:c.182A>G

Protein change:

Q61R; GLN61ARG

Links:

OMIM: 190020.0019; dbSNP: rs121913233

NCBI 1000 Genomes Browser:

rs121913233

Molecular consequence:

NM_001318054.2:c.-138A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130442.3:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005343.4:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_176795.5:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Vascular Tumors Including Pyogenic Granuloma
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000784596	Yale Center for Mendelian Genomics, Yale University	no assertion criteria provided	Likely pathogenic (Feb 19, 2015)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000784596

Yale Center for Mendelian Genomics, Yale University

no assertion criteria provided

Likely pathogenic
(Feb 19, 2015)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	2	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma.

Lim YH, Douglas SR, Ko CJ, Antaya RJ, McNiff JM, Zhou J, Choate KA, Narayan D.

J Invest Dermatol. 2015 Jun;135(6):1698-1700. doi: 10.1038/jid.2015.55. Epub 2015 Feb 19. No abstract available.

PubMed [citation]

PMID:: 25695684
PMCID:: PMC4430357

Details of each submission

From Yale Center for Mendelian Genomics, Yale University, SCV000784596.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 4, 2023

ClinVar

Relating variation to medicine