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NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2024
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:
RCV005023617.1

Allele description [Variation Report for NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)]

NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)

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.314T>G (p.Val105Gly)
HGVS:
  • NC_000003.12:g.179199139T>G
  • NG_012113.2:g.55617T>G
  • NM_006218.4:c.314T>GMANE SELECT
  • NP_006209.2:p.Val105Gly
  • NP_006209.2:p.Val105Gly
  • LRG_310t1:c.314T>G
  • LRG_310:g.55617T>G
  • LRG_310p1:p.Val105Gly
  • NC_000003.11:g.178916927T>G
  • NM_006218.2:c.314T>G
Protein change:
V105G
Molecular consequence:
  • NM_006218.4:c.314T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
BREAST CANCER, FAMILIAL; Hereditary breast cancer; hereditary breast carcinoma
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Hemifacial myohyperplasia (HFMH)
Synonyms:
Hypertrophy and asymmetry of the facial muscles
Identifiers:
MONDO: MONDO:0011723; MedGen: C1847521; OMIM: 606773
Name:
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Synonyms:
Megalencephaly cutis marmorata telangiectatica congenita; Megalocephaly cutis marmorata telangiectatica congenita; Macrocephaly cutis marmorata telangiectatica congenita; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011240; MedGen: C1865285; Orphanet: 60040; OMIM: 602501
Name:
Congenital macrodactylia
Synonyms:
Megalodactyly; Macrodactyly
Identifiers:
MONDO: MONDO:0007962; MedGen: C0265552; OMIM: 155500; Human Phenotype Ontology: HP:0004099
Name:
Seborrheic keratosis
Synonyms:
Seborrheic keratoses; Keratosis Seborrheica; Keratosis, seborrheic, somatic
Identifiers:
MONDO: MONDO:0008420; MedGen: C0022603; OMIM: 182000; Human Phenotype Ontology: HP:0031287
Name:
Epidermal nevus
Synonyms:
NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, epidermal, somatic
Identifiers:
MONDO: MONDO:0008093; MedGen: C0334082; Orphanet: 79414; OMIM: 162900; Human Phenotype Ontology: HP:0010816
Name:
CLAPO syndrome
Synonyms:
LOPEZ-GUTIERREZ SYNDROME; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
Identifiers:
MONDO: MONDO:0013125; MedGen: C2751313; Orphanet: 168984; OMIM: 613089
Name:
CLOVES syndrome
Synonyms:
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, SOMATIC; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013038; MedGen: C2752042; Orphanet: 140944; OMIM: 612918
Name:
Ovarian cancer
Synonyms:
OVARIAN CANCER, SOMATIC
Identifiers:
MONDO: MONDO:0008170; MedGen: C1140680; OMIM: 167000
Name:
Cerebral cavernous malformation 4
Synonyms:
Cerebral cavernous malformations 4
Identifiers:
MONDO: MONDO:0859192; MedGen: C5561991; OMIM: 619538
Name:
Cowden syndrome 5 (CWS5)
Identifiers:
MONDO: MONDO:0014047; MedGen: C3554518; Orphanet: 201; OMIM: 615108
Name:
Hepatocellular carcinoma (HCC)
Synonyms:
Primary carcinoma of liver; HEPATOMA; LIVER CELL CARCINOMA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007256; MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402
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:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500
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
SCV005661898Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 2, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV005661898.1

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

Last Updated: Apr 28, 2025