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NM_004985.5(KRAS):c.90C>A (p.Asp30Glu) AND Prostate cancer, hereditary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 29, 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:
RCV002292324.2

Allele description [Variation Report for NM_004985.5(KRAS):c.90C>A (p.Asp30Glu)]

NM_004985.5(KRAS):c.90C>A (p.Asp30Glu)

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.90C>A (p.Asp30Glu)
HGVS:
  • NC_000012.12:g.25245295G>T
  • NG_007524.2:g.10709C>A
  • NM_001369786.1:c.90C>A
  • NM_001369787.1:c.90C>A
  • NM_004985.5:c.90C>AMANE SELECT
  • NM_033360.4:c.90C>A
  • NP_001356715.1:p.Asp30Glu
  • NP_001356716.1:p.Asp30Glu
  • NP_004976.2:p.Asp30Glu
  • NP_203524.1:p.Asp30Glu
  • LRG_344t1:c.90C>A
  • LRG_344t2:c.90C>A
  • LRG_344:g.10709C>A
  • LRG_344p1:p.Asp30Glu
  • LRG_344p2:p.Asp30Glu
  • NC_000012.11:g.25398229G>T
Protein change:
D30E
Molecular consequence:
  • NM_001369786.1:c.90C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.90C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.90C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.90C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Prostate cancer, hereditary, 1 (HPC1)
Identifiers:
MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002584858Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca
no assertion criteria provided
Uncertain significance
(Jul 29, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Moroccangermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV002584858.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Moroccannot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022