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NM_005343.4(HRAS):c.81T>C (p.His27=) AND Squamous cell lung carcinoma

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 5, 2020
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:
RCV001250943.10

Allele description [Variation Report for NM_005343.4(HRAS):c.81T>C (p.His27=)]

NM_005343.4(HRAS):c.81T>C (p.His27=)

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.81T>C (p.His27=)
Other names:
p.H27H; NM_005343.3(HRAS):c.81T>C; p.His27His
HGVS:
  • NC_000011.10:g.534242A>G
  • NG_007666.1:g.6309T>C
  • NM_001130442.3:c.81T>C
  • NM_001318054.2:c.-239T>C
  • NM_005343.4:c.81T>CMANE SELECT
  • NM_176795.5:c.81T>C
  • NP_001123914.1:p.His27=
  • NP_001123914.1:p.His27=
  • NP_005334.1:p.His27=
  • NP_789765.1:p.His27=
  • LRG_506t1:c.81T>C
  • LRG_506:g.6309T>C
  • LRG_506p1:p.His27=
  • NC_000011.9:g.534242A>G
  • NM_001130442.2:c.81T>C
  • NM_005343.2:c.81T>C
  • NM_005343.3:c.81T>C
  • NM_005343.4:c.81T>C
  • NP_005334.1:p.(=)
  • c.81T>C
Links:
dbSNP: rs12628
NCBI 1000 Genomes Browser:
rs12628
Molecular consequence:
  • NM_001318054.2:c.-239T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005343.4:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_176795.5:c.81T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Squamous cell lung carcinoma
Synonyms:
Lung cancer, squamous cell, somatic; Squamous cell carcinoma of lung
Identifiers:
MONDO: MONDO:0005097; MedGen: C0149782; Human Phenotype Ontology: HP:0030359

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001250926Faculté Pluridciplinaire Nador, Université Mohamed Premier
no assertion criteria provided
Likely benign
(May 5, 2020)
somaticclinical testing, in vivo

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedin vivo, clinical testing

Details of each submission

From Faculté Pluridciplinaire Nador, Université Mohamed Premier, SCV001250926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not providednot providednot providednot providedin vivonot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided
2somaticyesnot providedLiver metastasis Tumornot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2025