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NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Chronic myelogenous leukemia, BCR-ABL1 positive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 10, 2022
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:
RCV002291496.3

Allele description [Variation Report for NM_004985.5(KRAS):c.35G>T (p.Gly12Val)]

NM_004985.5(KRAS):c.35G>T (p.Gly12Val)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
Other names:
p.G12V:GGT>GTT; NP_004976.2:p.Gly12Val
HGVS:
  • NC_000012.12:g.25245350C>A
  • NG_007524.2:g.10654G>T
  • NM_001369786.1:c.35G>T
  • NM_001369787.1:c.35G>T
  • NM_004985.5:c.35G>TMANE SELECT
  • NM_033360.4:c.35G>T
  • NP_001356715.1:p.Gly12Val
  • NP_001356716.1:p.Gly12Val
  • NP_004976.2:p.Gly12Val
  • NP_203524.1:p.Gly12Val
  • LRG_344t1:c.35G>T
  • LRG_344t2:c.35G>T
  • LRG_344:g.10654G>T
  • LRG_344p1:p.Gly12Val
  • LRG_344p2:p.Gly12Val
  • NC_000012.11:g.25398284C>A
  • NG_007524.1:g.10571G>T
  • NM_004985.3:c.35G>T
  • NM_004985.4:c.35G>T
  • NM_033360.2:c.35G>T
  • P01116:p.Gly12Val
Protein change:
G12V; GLY12VAL
Links:
UniProtKB: P01116#VAR_006840; OMIM: 190070.0006; OMIM: 190070.0026; dbSNP: rs121913529
NCBI 1000 Genomes Browser:
rs121913529
Molecular consequence:
  • NM_001369786.1:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chronic myelogenous leukemia, BCR-ABL1 positive (CML)
Synonyms:
Chronic myeloid leukemia; Chronic granulocytic leukemia; Chronic myelogenous leukemia
Identifiers:
MONDO: MONDO:0011996; MeSH: D015464; MedGen: C0279543; Orphanet: 521; OMIM: 608232; Human Phenotype Ontology: HP:0005506

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002583834Druker Lab, Oregon Health and Sciences University
no assertion criteria provided
Pathogenic
(Oct 10, 2022)
somaticclinical testing

Summary from all submissions

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

Details of each submission

From Druker Lab, Oregon Health and Sciences University, SCV002583834.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024