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NM_033360.4(KRAS):c.*101_*106del AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 15, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002485972.2

Allele description [Variation Report for NM_033360.4(KRAS):c.*101_*106del]

NM_033360.4(KRAS):c.*101_*106del

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_033360.4(KRAS):c.*101_*106del
HGVS:
  • NC_000012.12:g.25209815_25209820del
  • NG_007524.2:g.46189_46194del
  • NM_001369786.1:c.*101_*106del
  • NM_001369787.1:c.547_552del
  • NM_004985.5:c.547_552delMANE SELECT
  • NM_033360.4:c.*101_*106del
  • NP_001356716.1:p.Thr183_Lys184del
  • NP_004976.2:p.Thr183_Lys184del
  • LRG_344t1:c.547_552del
  • LRG_344t2:c.*101_*106del
  • LRG_344:g.46189_46194del
  • LRG_344p1:p.Thr183_Lys184del
  • NC_000012.11:g.25362744_25362749del
  • NC_000012.11:g.25362749_25362754del
  • NG_007524.1:g.46106_46111del
  • NM_004985.4:c.547_552delACAAAG
Links:
dbSNP: rs1339924833
NCBI 1000 Genomes Browser:
rs1339924833
Molecular consequence:
  • NM_001369786.1:c.*101_*106del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_033360.4:c.*101_*106del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369787.1:c.547_552del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004985.5:c.547_552del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Noonan syndrome 3 (NS3)
Synonyms:
KRAS gene related Noonan syndrome
Identifiers:
MONDO: MONDO:0012371; MedGen: C1860991; Orphanet: 648; OMIM: 609942
Name:
Linear nevus sebaceous syndrome
Synonyms:
SFM syndrome; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008097; MedGen: C4552097; Orphanet: 2612; OMIM: 163200; Human Phenotype Ontology: HP:0010817
Name:
Toriello-Lacassie-Droste syndrome
Synonyms:
Oculoectodermal syndrome; Aplasia cutis congenita with epibulbar dermoids
Identifiers:
MONDO: MONDO:0010854; MedGen: C1838329; Orphanet: 3339; OMIM: 600268
Name:
Cerebral arteriovenous malformation (BAVM)
Synonyms:
CEREBRAL ARTERIOVENOUS MALFORMATIONS; Arteriovenous malformations of the brain
Identifiers:
MONDO: MONDO:0007154; MedGen: C0917804; Orphanet: 46724; OMIM: 108010; Human Phenotype Ontology: HP:0002408
Name:
Malignant tumor of urinary bladder
Synonyms:
Urinary bladder cancer; Urinary Bladder Neoplasms; Bladder cancer
Identifiers:
MONDO: MONDO:0001187; MedGen: C0005684; OMIM: 109800
Name:
Carcinoma of pancreas
Synonyms:
PANCREATIC ACINAR CARCINOMA; PANCREATIC CARCINOMA; Pancreatic cancer, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005192; MeSH: C562463; MedGen: C0235974; Orphanet: 1333
Name:
Autoimmune lymphoproliferative syndrome type 4
Synonyms:
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV; RAS-associated autoimmune leukoproliferative disorder
Identifiers:
MONDO: MONDO:0013767; MedGen: C2674723; Orphanet: 268114; OMIM: 614470
Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808
Name:
Cardiofaciocutaneous syndrome 2 (CFC2)
Identifiers:
MONDO: MONDO:0014112; MedGen: C3809005; Orphanet: 1340; OMIM: 615278
Name:
Gastric cancer
Synonyms:
Stomach cancer; Malignant tumor of stomach
Identifiers:
MONDO: MONDO:0001056; MeSH: D013274; MedGen: C0024623; OMIM: 613659; Human Phenotype Ontology: HP:0012126
Name:
Lung cancer
Synonyms:
Lung cancer, somatic; Malignant tumor of lung
Identifiers:
MONDO: MONDO:0008903; MedGen: C0242379; OMIM: 211980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002789244Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 15, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002789244.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024