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NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) AND Arteriovenous malformation

Germline classification:
Pathogenic (1 submission)
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:
RCV000860022.1

Allele description [Variation Report for NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)]

NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)

Genes:
HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)
HGVS:
  • NC_000011.10:g.533879_533884delinsAACATCCAGGAC
  • NG_007666.1:g.6667_6672delinsGTCCTGGATGTT
  • NM_001130442.3:c.172_177delinsGTCCTGGATGTT
  • NM_001318054.2:c.-148_-143delinsGTCCTGGATGTT
  • NM_005343.4:c.172_177delinsGTCCTGGATGTTMANE SELECT
  • NM_176795.5:c.172_177delinsGTCCTGGATGTT
  • NP_001123914.1:p.Thr58_Ala59delinsValLeuAspVal
  • NP_005334.1:p.Thr58_Ala59delinsValLeuAspVal
  • NP_789765.1:p.Thr58_Ala59delinsValLeuAspVal
  • LRG_506t1:c.172_177delinsGTCCTGGATGTT
  • LRG_506:g.6667_6672delinsGTCCTGGATGTT
  • LRG_506p1:p.Thr58_Ala59delinsValLeuAspVal
  • NC_000011.9:g.533879_533884delinsAACATCCAGGAC
Links:
dbSNP: rs1589792836
NCBI 1000 Genomes Browser:
rs1589792836
Molecular consequence:
  • NM_001318054.2:c.-148_-143delinsGTCCTGGATGTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.172_177delinsGTCCTGGATGTT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_005343.4:c.172_177delinsGTCCTGGATGTT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_176795.5:c.172_177delinsGTCCTGGATGTT - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
Arteriovenous malformation
Synonyms:
AVM
Identifiers:
MeSH: D001165; MedGen: C0003857; Human Phenotype Ontology: HP:0100026

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992589Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School
no assertion criteria provided
Pathogenicsomaticresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedresearch

Citations

PubMed

Somatic mutations in intracranial arteriovenous malformations.

Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK.

PLoS One. 2019;14(12):e0226852. doi: 10.1371/journal.pone.0226852.

PubMed [citation]
PMID:
31891627
PMCID:
PMC6938308

Details of each submission

From Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School, SCV000992589.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023