NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) 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:
RCV000662269.1

Allele description [Variation Report for NM_005343.4(HRAS):c.145G>A (p.Glu49Lys)]

NM_005343.4(HRAS):c.145G>A (p.Glu49Lys)

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.145G>A (p.Glu49Lys)
HGVS:
  • NC_000011.10:g.533911C>T
  • NG_007666.1:g.6640G>A
  • NM_001130442.3:c.145G>A
  • NM_001318054.2:c.-175G>A
  • NM_005343.4:c.145G>AMANE SELECT
  • NM_176795.5:c.145G>A
  • NP_001123914.1:p.Glu49Lys
  • NP_005334.1:p.Glu49Lys
  • NP_789765.1:p.Glu49Lys
  • NP_789765.1:p.Glu49Lys
  • LRG_506t1:c.145G>A
  • LRG_506:g.6640G>A
  • LRG_506p1:p.Glu49Lys
  • NC_000011.9:g.533911C>T
  • NM_176795.4:c.145G>A
Protein change:
E49K
Links:
dbSNP: rs1277340795
NCBI 1000 Genomes Browser:
rs1277340795
Molecular consequence:
  • NM_001318054.2:c.-175G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.145G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Vascular Tumors Including Pyogenic Granuloma
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784597Yale Center for Mendelian Genomics, Yale University
no assertion criteria provided
Likely pathogenic
(Feb 19, 2015) 		somaticliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes2not providednot providednot providednot providedliterature 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, SCV000784597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024