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NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) AND Colorectal cancer

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:
RCV001293839.1

Allele description [Variation Report for NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)]

NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)

Gene:
PIK3R1:phosphoinositide-3-kinase regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q13.1
Genomic location:
Preferred name:
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
HGVS:
  • NC_000005.10:g.68293753del
  • NG_012849.2:g.82998del
  • NM_001242466.2:c.255del
  • NM_181504.4:c.534del
  • NM_181523.3:c.1344delMANE SELECT
  • NM_181524.2:c.444del
  • NP_001229395.1:p.Lys85fs
  • NP_852556.2:p.Lys178fs
  • NP_852664.1:p.Lys448fs
  • NP_852665.1:p.Lys148fs
  • LRG_453t1:c.1344del
  • LRG_453:g.82998del
  • LRG_453p1:p.Lys448fs
  • NC_000005.9:g.67589576del
  • NC_000005.9:g.67589581del
  • NM_181523.2:c.1344delA
  • NM_181523.3:c.1344delAMANE SELECT
Protein change:
K148fs
Links:
dbSNP: rs1289537429
NCBI 1000 Genomes Browser:
rs1289537429
Molecular consequence:
  • NM_001242466.2:c.255del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181504.4:c.534del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181523.3:c.1344del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181524.2:c.444del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481770Genomic Center, National Cancer Institute
no assertion criteria provided
Pathogenicgermlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Genomic Center, National Cancer Institute, SCV001481770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedwhole blood and tissuenot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024