ClinVar Genomic variation as it relates to human health
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
The aggregate oncogenicity classification for this variant for one or more tumor types, using the ClinGen/CGC/VICC terminology. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate oncogenicity classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Variant Details
- Identifiers
-
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
Variation ID: 31945 Accession: VCV000031945.41
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 3q26.32 3: 179210192 (GRCh38) [ NCBI UCSC ] 3: 178927980 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 1, 2013 Oct 8, 2024 Jan 1, 2024 Somatic - Oncogenicity Aug 11, 2024 Aug 11, 2024 Jul 31, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_006218.4:c.1258T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_006209.2:p.Cys420Arg missense NC_000003.12:g.179210192T>C NC_000003.11:g.178927980T>C NG_012113.2:g.66670T>C LRG_310:g.66670T>C LRG_310t1:c.1258T>C P42336:p.Cys420Arg - Protein change
- C420R
- Other names
- -
- Canonical SPDI
- NC_000003.12:179210191:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1296 | 1330 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (3) |
criteria provided, single submitter
|
- | RCV000024623.19 | |
Pathogenic (2) |
criteria provided, single submitter
|
Oct 8, 2010 | RCV000154512.9 | |
Pathogenic (1) |
no assertion criteria provided
|
Apr 23, 2014 | RCV000201232.2 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000444813.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000423306.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000427443.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000434659.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000444019.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000433143.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000439612.3 | |
Pathogenic (3) |
criteria provided, single submitter
|
Oct 1, 2021 | RCV000709694.11 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001327960.3 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV001526612.4 | |
Segmental undergrowth associated with lymphatic malformation
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Pathogenic (1) |
criteria provided, single submitter
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Apr 6, 2021 | RCV001705599.3 |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 1, 2024 | RCV002054475.19 | |
Likely pathogenic (1) |
no assertion criteria provided
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Mar 19, 2024 | RCV004527297.1 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 12, 2023 | RCV003588566.2 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 08, 2010)
|
criteria provided, single submitter
Method: clinical testing
|
Ovarian Cancer
Affected status: not provided
Allele origin:
somatic
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000204183.2
First in ClinVar: Jan 31, 2015 Last updated: Jan 31, 2015 |
Number of individuals with the variant: 1
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
CLOVES syndrome
Affected status: yes
Allele origin:
somatic
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001736961.1
First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Capillary malformation
Affected status: yes
Allele origin:
somatic
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001737042.1
First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021 |
|
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Pathogenic
(Apr 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Segmental undergrowth associated with lymphatic malformation
Affected status: yes
Allele origin:
somatic
|
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz
Accession: SCV001934207.1
First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
Number of individuals with the variant: 1
Clinical Features:
Limb undergrowth (present) , Lymphangioma (present)
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Pathogenic
(Feb 23, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
somatic
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Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002525710.1
First in ClinVar: Jun 11, 2022 Last updated: Jun 11, 2022 |
Comment:
This variant has previously been reported in multiple unrelated individuals with PIK3CA-related segmental overgrowth syndrome, including isolated lymphatic malformation (PMID: 25681199). PIK3CA variants associated with … (more)
This variant has previously been reported in multiple unrelated individuals with PIK3CA-related segmental overgrowth syndrome, including isolated lymphatic malformation (PMID: 25681199). PIK3CA variants associated with PROS, including this patient's alteration, overlap those reported as oncogenic variants found in multiple tumor types (cBioPortal and NCI's Genomic Data Commons cancer databases). The p.Cys420Arg replaces the cysteine at codon 420 with arginine within the C2 domain of the PIK3CA protein (UniProt P42336). Experimental studies have demonstrated that the p.Cys240Arg variant causes overactivation of the PI3K/AKT/mTOR pathway and increased proliferation in vitro (PMID: 26627007). (less)
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Abnormal vascular morphology (present)
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Lower limb asymmetry (present) , Overgrowth (present) , Facial asymmetry (present) , Hemihypertrophy (present) , Lipoma (present) , Abnormality of the skeletal system (present) , … (more)
Lower limb asymmetry (present) , Overgrowth (present) , Facial asymmetry (present) , Hemihypertrophy (present) , Lipoma (present) , Abnormality of the skeletal system (present) , Obstructive sleep apnea syndrome (present) , Enlarged tonsils (present) , Vascular skin abnormality (present) (less)
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Lower limb asymmetry (present) , Vascular skin abnormality (present)
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Hemihypertrophy of lower limb (present) , Capillary malformation (present) , Abnormal lymphatic vessel morphology (present)
Observation 5:
Number of individuals with the variant: 1
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Venous malformation (present)
Observation 7:
Number of individuals with the variant: 1
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Pathogenic
(Dec 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cowden syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004366246.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 420 of the PIK3CA protein … (more)
This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 420 of the PIK3CA protein (p.Cys420Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with PIK3CA-related overgrowth syndrome (PMID: 22658544, 24782230; Invitae). ClinVar contains an entry for this variant (Variation ID: 31945). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIK3CA protein function. Experimental studies have shown that this missense change affects PIK3CA function (PMID: 15930273, 17376864, 18074223, 22120714, 22949682). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 2024)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002497234.17
First in ClinVar: Apr 08, 2022 Last updated: Oct 08, 2024 |
Comment:
PIK3CA: PM1, PM2, PM5, PS2:Moderate, PS4:Moderate, PP4, PS3:Supporting
Number of individuals with the variant: 3
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Pathogenic
(Oct 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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CLAPO syndrome
Affected status: yes
Allele origin:
unknown
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Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV001976698.1
First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
Comment:
PS1, PM1, PM2, PM5, PP2, PP3, PP5
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: provider interpretation
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Abnormal cardiovascular system morphology
Affected status: yes
Allele origin:
somatic
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MAGI's Lab - Research, MAGI Group
Accession: SCV001437636.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
|
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Pathogenic
(Jun 08, 2012)
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no assertion criteria provided
Method: literature only
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CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, SOMATIC
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000050489.6
First in ClinVar: Apr 04, 2013 Last updated: Mar 10, 2024 |
Comment on evidence:
CLOVE Syndrome In a 15-year-old male and an unrelated 18-year-old female with CLOVE syndrome (612918), Kurek et al. (2012) identified somatic mosaicism for a 1258T-C … (more)
CLOVE Syndrome In a 15-year-old male and an unrelated 18-year-old female with CLOVE syndrome (612918), Kurek et al. (2012) identified somatic mosaicism for a 1258T-C transition in the PIK3CA gene, resulting in a cys420-to-arg (C420R) substitution that was present in affected tissues from multiple embryonic lineages with a mutant allele frequency ranging from 3 to 30%. CLAPO Syndrome In tissue from a lymphatic malformation (LM) of oral mucosa from a 11-year-old female patient (P6) with CLAPO syndrome (613089), Rodriguez-Laguna et al. (2018) detected a c.1258T-C transition in the PIK3CA gene that resulted in a cys420-to-arg (C420R) mutation in the C2 domain. The mutation was present at an allele frequency of 12% by deep sequencing, was present in 78 samples from the Catalogue of Somatic Mutations in Cancer (COSMIC) database, and had been previously reported in 15 patients with vascular overgrowth disorders. Functional studies were not performed. (less)
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Pathogenic
(Jun 08, 2012)
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no assertion criteria provided
Method: literature only
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CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH, SOMATIC
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000839594.4
First in ClinVar: Oct 14, 2018 Last updated: Mar 10, 2024 |
Comment on evidence:
CLOVE Syndrome In a 15-year-old male and an unrelated 18-year-old female with CLOVE syndrome (612918), Kurek et al. (2012) identified somatic mosaicism for a 1258T-C … (more)
CLOVE Syndrome In a 15-year-old male and an unrelated 18-year-old female with CLOVE syndrome (612918), Kurek et al. (2012) identified somatic mosaicism for a 1258T-C transition in the PIK3CA gene, resulting in a cys420-to-arg (C420R) substitution that was present in affected tissues from multiple embryonic lineages with a mutant allele frequency ranging from 3 to 30%. CLAPO Syndrome In tissue from a lymphatic malformation (LM) of oral mucosa from a 11-year-old female patient (P6) with CLAPO syndrome (613089), Rodriguez-Laguna et al. (2018) detected a c.1258T-C transition in the PIK3CA gene that resulted in a cys420-to-arg (C420R) mutation in the C2 domain. The mutation was present at an allele frequency of 12% by deep sequencing, was present in 78 samples from the Catalogue of Somatic Mutations in Cancer (COSMIC) database, and had been previously reported in 15 patients with vascular overgrowth disorders. Functional studies were not performed. (less)
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Pathogenic
(Apr 23, 2014)
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no assertion criteria provided
Method: clinical testing
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PIK3CA Related Overgrowth Spectrum
Affected status: yes
Allele origin:
somatic
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Clinical Genomics Laboratory, Washington University in St. Louis
Accession: SCV000255982.2
First in ClinVar: Oct 22, 2015 Last updated: Oct 07, 2023 |
Indication for testing: Overgrowth of lower torso
Tissue: Fresh Tissue
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505477.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Prostate adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505478.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
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Breast neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505479.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505480.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Adenoid cystic carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505481.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Gastric adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505482.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
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Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000505483.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Feb 01, 2022)
|
no assertion criteria provided
Method: clinical testing
|
CLAPO syndrome
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
Accession: SCV002583378.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
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Likely pathogenic
(Mar 19, 2024)
|
no assertion criteria provided
Method: clinical testing
|
Rare combined vascular malformation
Affected status: yes
Allele origin:
somatic
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Institute of Tissue Medicine and Pathology, University of Bern
Accession: SCV005038930.1
First in ClinVar: May 07, 2024 Last updated: May 07, 2024 |
Number of individuals with the variant: 1
|
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Likely pathogenic
(Dec 01, 2018)
|
no assertion criteria provided
Method: research
|
Ovarian neoplasm
Affected status: yes
Allele origin:
somatic
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000924133.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
|
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not provided
(-)
|
no classification provided
Method: literature only
|
CLOVES syndrome
Affected status: not provided
Allele origin:
unknown
|
GeneReviews
Accession: SCV000086941.2
First in ClinVar: Oct 01, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
- | - | - | - | PMID: 15016963 |
- | - | - | - | PMID: 15520168 |
- | - | - | - | PMID: 15930273 |
- | - | - | - | PMID: 17376864 |
- | - | - | - | PMID: 18074223 |
- | - | - | - | PMID: 18183466 |
- | - | - | - | PMID: 22120714 |
- | - | - | - | PMID: 22658544 |
- | - | - | - | PMID: 22949682 |
- | - | - | - | PMID: 24782230 |
- | - | - | - | PMID: 25157968 |
- | - | - | - | PMID: 26619011 |
- | - | - | - | PMID: 29446767 |
- | - | - | - | PMID: 34008892 |
http://docm.genome.wustl.edu/variants/ENST00000263967:c.1258T>C | - | - | - | - |
- | - | - | - | PMID: 23946963 |
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Conditions - Somatic
Tumor type
Help
The tumor type for this variant-condition (RCV) record in ClinVar. |
Clinical impact (# of submissions)
Help
The aggregate somatic clinical impact for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate somatic clinical impact is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status. |
Oncogenicity
Help
The aggregate oncogenicity classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate oncogenicity classification is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the tumor type. |
Variation/condition record
Help
The most recent date that a submitter evaluated this variant for the tumor type. |
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Oncogenic
criteria provided, single submitter
|
Jul 31, 2024 | RCV004668743.1 |
Submissions - Somatic
Oncogenicity
Help
The submitted oncogenicity classification for each SCV record. (Last evaluated) |
Review Status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. |
Tumor type
Help
The tumor type for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the somatic clinical impact, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Oncogenic
(Jul 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Neoplasm
Affected status: unknown
Allele origin:
somatic
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005094530.1
First In ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
|
Citations for somatic classification of this variant
HelpThere are no citations for somatic classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs121913272 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.