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NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000119357.3

Allele description [Variation Report for NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)]

NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)

Gene:
PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)
HGVS:
  • NC_000003.12:g.179218334G>A
  • NG_012113.2:g.74812G>A
  • NM_006218.4:c.1664G>AMANE SELECT
  • NP_006209.2:p.Arg555Lys
  • LRG_310:g.74812G>A
  • NC_000003.11:g.178936122G>A
  • NG_012113.1:g.74812G>A
Protein change:
R555K
Links:
dbSNP: rs104886000
NCBI 1000 Genomes Browser:
rs104886000
Molecular consequence:
  • NM_006218.4:c.1664G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000154254Laboratory of Translational Genomics, National Cancer Institute
no classification provided
not providedsomaticnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Laboratory of Translational Genomics, National Cancer Institute, SCV000154254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024