VCV000050853.11 - ClinVar

NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)

Germline

Classification

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.

(10)

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.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

Oncogenicity

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.

(1)

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.

Oncogenic

criteria provided, single submitter

Variant Details

Identifiers

NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)

Variation ID: 50853 Accession: VCV000050853.11

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 9q21.2 9: 77797577 (GRCh38) [ NCBI UCSC ] 9: 80412493 (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	May 1, 2015	Dec 24, 2023	Oct 14, 2023
Somatic - Oncogenicity	Aug 11, 2024	Aug 11, 2024	Jul 31, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_002072.5:c.548G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_002063.2:p.Arg183Gln	missense
NM_002072.4:c.548G>A
NC_000009.12:g.77797577C>T
NC_000009.11:g.80412493C>T
NG_027904.2:g.238727G>A
LRG_1110:g.238727G>A
LRG_1110t1:c.548G>A	LRG_1110p1:p.Arg183Gln
	P50148:p.Arg183Gln

... more HGVS ... less HGVS

Protein change

R183Q

Other names

Canonical SPDI

NC_000009.12:77797576:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA143805 UniProtKB: P50148#VAR_067270 OMIM: 600998.0001 dbSNP: rs397514698 VarSome

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
Gene	OMIM	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.
GNAQ		-	-	GRCh38 GRCh37	53	94

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.
Capillary malformation	Pathogenic (2)	criteria provided, single submitter	Oct 14, 2023	RCV000043593.8
Sturge-Weber syndrome	Pathogenic (1)	no assertion criteria provided	Dec 1, 2014	RCV000043592.7
Angioosteohypertrophic syndrome	Pathogenic (1)	criteria provided, single submitter	-	RCV001526638.3
Segmental undergrowth associated with capillary malformation	Pathogenic (1)	criteria provided, single submitter	Apr 6, 2021	RCV001705695.2
Capillary malformation Sturge-Weber syndrome	Pathogenic (1)	criteria provided, single submitter	Jul 19, 2016	RCV000533476.3
Familial multiple nevi flammei	Likely pathogenic (1)	criteria provided, single submitter	Oct 7, 2022	RCV002294003.1
not provided	Pathogenic (1)	criteria provided, single submitter	Aug 1, 2021	RCV002254275.2
Melanoma	Uncertain significance (1)	no assertion criteria provided	Mar 28, 2023	RCV003221795.1
Hemangiomatosis	Pathogenic (1)	criteria provided, single submitter	-	RCV001526543.3

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.
Pathogenic (Oct 14, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Capillary malformation Affected status: yes Allele origin: somatic	Clinical Genomics Laboratory, Washington University in St. Louis Accession: SCV004176929.1 First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023	Comment: A GNAQ c.548G>A (p.Arg183Gln) variant was identified at an allelic fraction consistent with somatic origin. This variant has been reported in multiple individuals affected with … (more) A GNAQ c.548G>A (p.Arg183Gln) variant was identified at an allelic fraction consistent with somatic origin. This variant has been reported in multiple individuals affected with Sturge-Weber syndrome, nonsyndromic port-wine stains, and phakomatosis pigmentovascularis with capillary malformation and hemihypertrophy (Shirley MD et al., PMID: 23656586; Nakashima M et al., PMID: 25374402; Frigerio A et al., PMID: 26192947; Thomas AC et al., PMID: 26778290; He R et al., PMID: 32613723). This variant has been reported in the ClinVar database as a pathogenic/likely pathogenic variant by multiple submitters (ClinVar ID: 50853), and it has been reported in multiple cases in the cancer database COSMIC (Genomic ID: COSV54106047). This variant is absent from the general population (gnomAD v.3.1.2), indicating it is not a common variant. This variant resides within the GTP-binding site of the G2 motif, which is defined as a critical functional domain (Nakashima M et al., PMID: 25374402). Computational predictors indicate that the GNAQ c.548G>A (p.Arg183Gln) variant is damaging, evidence that correlates with impact on GNAQ function. In support of this prediction, functional studies show that this variant increases activation of the mitogen-activated protein kinase (MAPK) pathway and increases angiopoietin-2 expression (Shirley MD et al., PMID: 23656586; Huang L et al., PMID: 34670408). GNAQ is a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease. Based on an internally-developed protocol informed by the ACMG/AMP guidelines (Richards S et al., PMID: 25741868), the GNAQ c.548G>A (p.Arg183Gln) variant is classified as pathogenic. (less)
Pathogenic (Apr 06, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Segmental undergrowth associated with capillary malformation Affected status: yes Allele origin: somatic	Institute of Medical and Molecular Genetics, Hospital Universitario La Paz Accession: SCV001934206.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021	Number of individuals with the variant: 1 Clinical Features: Limb undergrowth (present) , Capillary malformation (present)
Pathogenic (Aug 01, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: yes Allele origin: somatic	Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital Accession: SCV002525658.1 First in ClinVar: Jun 11, 2022 Last updated: Jun 11, 2022	Comment: This variant is a recurrent pathogenic variant that accounts for ~90% of individuals with non-syndromic port-wine stains and Sturge-Weber syndrome (MIM: 185300), which, along with … (more) This variant is a recurrent pathogenic variant that accounts for ~90% of individuals with non-syndromic port-wine stains and Sturge-Weber syndrome (MIM: 185300), which, along with congenital capillary malformations (MIM: 163000), is included within GNAQ-related disorder (PMID: 25374402, PMID: 23656586). (less) Observation 1: Number of individuals with the variant: 1 Clinical Features: Capillary malformation (present) Observation 2: Number of individuals with the variant: 1 Clinical Features: Capillary malformation (present) Observation 3: Number of individuals with the variant: 1 Clinical Features: Nevus flammeus (present) , Seizure (present) Observation 4: Number of individuals with the variant: 1 Clinical Features: Nevus flammeus (present) Observation 5: Number of individuals with the variant: 1 Clinical Features: Glaucoma (present) Observation 6: Number of individuals with the variant: 1 Clinical Features: Arteriovenous malformation (present) Observation 7: Number of individuals with the variant: 1 Clinical Features: Capillary malformation (present)
Pathogenic (Jul 19, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Sturge-Weber syndrome Familial multiple nevi flammei Affected status: yes Allele origin: somatic	Undiagnosed Diseases Network, NIH Study: Undiagnosed Diseases Network (NIH), UDN Accession: SCV000622156.2 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017	Comment: This variant has been described in multiple affected individuals with a mosaic etiology (PMID 26778290) Number of individuals with the variant: 1 Clinical Features: Myoclonus (present) , Venous malformation (present) , Abnormal venous morphology (present) , Vascular tortuosity (present) , Vascular skin abnormality (present) , Tremor (present) , Skin … (more) Myoclonus (present) , Venous malformation (present) , Abnormal venous morphology (present) , Vascular tortuosity (present) , Vascular skin abnormality (present) , Tremor (present) , Skin ulcer (present) , Prominent superficial veins (present) , Premature birth (present) , Poor wound healing (present) , Poor appetite (present) , Pigmentation of the sclera (present) , Pain (present) , Overgrowth (present) , Nevus of Ota (present) , Nevus flammeus (present) , Macular hyperpigmented dermopathy (present) , Lower limb asymmetry (present) , Irregular hyperpigmentation (present) , Hyperpigmentation of the skin (present) , Hemihypertrophy (present) , Hemangioma (present) , Erythema (present) , Edema of the upper limbs (present) , Edema of the lower limbs (present) , Eczema (present) , Easy fatigability (present) , Dyspnea (present) , Dry skin (present) , Clinodactyly of the 5th finger (present) , Chalazion (present) , Blue sclerae (present) , Blepharitis (present) , Astigmatism (present) , Anisometropia (present) , Abnormal vena cava morphology (present) , Abnormality of the vasculature (present) , Abnormality of neck blood vessel (present) , Abnormality of color vision (present) (less) Age: 10-19 years Sex: male Ethnicity/Population group: Asian Tissue: Affected and unaffected skin samples were assayed for the variant; mosaicism was identified only in affected skin sample.
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hemangiomatosis Affected status: yes Allele origin: somatic	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne Accession: SCV001736968.1 First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Angioosteohypertrophic syndrome Affected status: yes Allele origin: somatic	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne Accession: SCV001737069.1 First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021
Likely pathogenic (Oct 07, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial multiple nevi flammei Affected status: yes Allele origin: unknown	Institute of Human Genetics, University of Leipzig Medical Center Accession: SCV002587081.1 First in ClinVar: Oct 29, 2022 Last updated: Oct 29, 2022	Comment: _x000D_ Criteria applied: PS3, PS4_MOD, PM2_SUP, PP3
Pathogenic (Dec 01, 2014)	no assertion criteria provided Method: literature only	STURGE-WEBER SYNDROME, SOMATIC, MOSAIC Affected status: not provided Allele origin: somatic	OMIM Accession: SCV000071610.3 First in ClinVar: Jun 07, 2013 Last updated: Dec 31, 2019	Publications: PubMed (2) PubMed: 23656586‚ 25188413 Comment on evidence: Shirley et al. (2013) performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 patients with Sturge-Weber syndrome (SWS; … (more) Shirley et al. (2013) performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 patients with Sturge-Weber syndrome (SWS; 185300) and identified 1 nonsynonymous somatic single-nucleotide variant, a c.548G-A transition in the GNAQ gene, resulting in an arg183-to-gln (R183Q) substitution at a highly conserved residue, that was present in all 3 affected samples and was not present in the normal-appearing samples. Screening of additional SWS patients as well as individuals with nonsyndromic port-wine stains (163000) revealed that all 9 SWS patients were positive for the R183Q mutation in port-wine-stained skin, 6 (86%) of 7 participants with SWS were negative for the mutation in visibly normal skin, and 12 (92%) of 13 participants with nonsyndromic port-wine stains were positive for the mutation. The mutation was also detected in brain samples from 15 (83%) of 18 SWS patients, whereas all 6 brain samples from normal controls were negative. Transfection studies in HEK 293T cells showed significant activation of ERK (600997) by the R183Q mutant compared to control. Overall, 23 (88%) of 26 SWS patients were positive for the gain-of-function R183Q mutation in either port wine-stained skin or brain tissue. Shirley et al. (2013) suggested that nonsyndromic port-wine stains may represent a late origin of the somatic GNAQ mutation in vascular endothelial cells, whereas in Sturge-Weber syndrome, the mutation may occur earlier in development, in progenitor cells that are precursors to a larger variety of cell types and tissues, leading to the syndromic phenotype. Five (0.7%) of 669 samples from the 1000 Genomes Project database were positive for R183Q; noting that the reported prevalence of port-wine stains is 0.3% to 0.5%, Shirley et al. (2013) hypothesized that the 0.7% prevalence in that database represented the occurrence of port-wine stains in the population. In tissue from a patient with a sporadic long-standing unilateral facial port-wine stain, Lian et al. (2014) detected the GNAQ R183Q mutation at an allelic fraction of 0.05 in PWS tissue; the mutation was not found in paired normal tissue. The percentage of GNAQ mutation was consistent with the percentage of lesional endothelial cells in the specimen. (less)
Pathogenic (Dec 01, 2014)	no assertion criteria provided Method: literature only	CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC Affected status: not provided Allele origin: somatic	OMIM Accession: SCV000071611.3 First in ClinVar: Jun 07, 2013 Last updated: Dec 31, 2019	Publications: PubMed (2) PubMed: 23656586‚ 25188413 Comment on evidence: Shirley et al. (2013) performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 patients with Sturge-Weber syndrome (SWS; … (more) Shirley et al. (2013) performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 patients with Sturge-Weber syndrome (SWS; 185300) and identified 1 nonsynonymous somatic single-nucleotide variant, a c.548G-A transition in the GNAQ gene, resulting in an arg183-to-gln (R183Q) substitution at a highly conserved residue, that was present in all 3 affected samples and was not present in the normal-appearing samples. Screening of additional SWS patients as well as individuals with nonsyndromic port-wine stains (163000) revealed that all 9 SWS patients were positive for the R183Q mutation in port-wine-stained skin, 6 (86%) of 7 participants with SWS were negative for the mutation in visibly normal skin, and 12 (92%) of 13 participants with nonsyndromic port-wine stains were positive for the mutation. The mutation was also detected in brain samples from 15 (83%) of 18 SWS patients, whereas all 6 brain samples from normal controls were negative. Transfection studies in HEK 293T cells showed significant activation of ERK (600997) by the R183Q mutant compared to control. Overall, 23 (88%) of 26 SWS patients were positive for the gain-of-function R183Q mutation in either port wine-stained skin or brain tissue. Shirley et al. (2013) suggested that nonsyndromic port-wine stains may represent a late origin of the somatic GNAQ mutation in vascular endothelial cells, whereas in Sturge-Weber syndrome, the mutation may occur earlier in development, in progenitor cells that are precursors to a larger variety of cell types and tissues, leading to the syndromic phenotype. Five (0.7%) of 669 samples from the 1000 Genomes Project database were positive for R183Q; noting that the reported prevalence of port-wine stains is 0.3% to 0.5%, Shirley et al. (2013) hypothesized that the 0.7% prevalence in that database represented the occurrence of port-wine stains in the population. In tissue from a patient with a sporadic long-standing unilateral facial port-wine stain, Lian et al. (2014) detected the GNAQ R183Q mutation at an allelic fraction of 0.05 in PWS tissue; the mutation was not found in paired normal tissue. The percentage of GNAQ mutation was consistent with the percentage of lesional endothelial cells in the specimen. (less)
Uncertain significance (Mar 28, 2023)	no assertion criteria provided Method: research	Melanoma Affected status: yes Allele origin: somatic	Dave Chen Lab, Washington University School of Medicine Accession: SCV003914813.1 First in ClinVar: Apr 23, 2023 Last updated: Apr 23, 2023	Comment: Somatic variant identified in a melanoma arising in a patient with Tatton-Brown Rahman Syndrome Age: 30-39 years Sex: male Ethnicity/Population group: Caucasian Geographic origin: United States

Comment:

A GNAQ c.548G>A (p.Arg183Gln) variant was identified at an allelic fraction consistent with somatic origin. This variant has been reported in multiple individuals affected with Sturge-Weber syndrome, nonsyndromic port-wine stains, and phakomatosis pigmentovascularis with capillary malformation and hemihypertrophy (Shirley MD et al., PMID: 23656586; Nakashima M et al., PMID: 25374402; Frigerio A et al., PMID: 26192947; Thomas AC et al., PMID: 26778290; He R et al., PMID: 32613723). This variant has been reported in the ClinVar database as a pathogenic/likely pathogenic variant by multiple submitters (ClinVar ID: 50853), and it has been reported in multiple cases in the cancer database COSMIC (Genomic ID: COSV54106047). This variant is absent from the general population (gnomAD v.3.1.2), indicating it is not a common variant. This variant resides within the GTP-binding site of the G2 motif, which is defined as a critical functional domain (Nakashima M et al., PMID: 25374402). Computational predictors indicate that the GNAQ c.548G>A (p.Arg183Gln) variant is damaging, evidence that correlates with impact on GNAQ function. In support of this prediction, functional studies show that this variant increases activation of the mitogen-activated protein kinase (MAPK) pathway and increases angiopoietin-2 expression (Shirley MD et al., PMID: 23656586; Huang L et al., PMID: 34670408). GNAQ is a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease. Based on an internally-developed protocol informed by the ACMG/AMP guidelines (Richards S et al., PMID: 25741868), the GNAQ c.548G>A (p.Arg183Gln) variant is classified as pathogenic.

Comment:

This variant is a recurrent pathogenic variant that accounts for ~90% of individuals with non-syndromic port-wine stains and Sturge-Weber syndrome (MIM: 185300), which, along with congenital capillary malformations (MIM: 163000), is included within GNAQ-related disorder (PMID: 25374402, PMID: 23656586).

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Novel genetic mutations in a sporadic port-wine stain.	Lian CG	JAMA dermatology	2014	PMID: 25188413
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.	Shirley MD	The New England journal of medicine	2013	PMID: 23656586

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.
Neoplasm		Oncogenic criteria provided, single submitter	Jul 31, 2024	RCV004668764.1

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. (Assertion criteria)	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.

Oncogenic

(Jul 31, 2024)

(ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022)

Method: clinical testing

Neoplasm

Affected status: unknown

Allele origin: somatic

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Accession: SCV005094172.1
First In ClinVar: Aug 11, 2024
Last updated: Aug 11, 2024

Comment:

Citations for somatic classification of this variant

There 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 rs397514698 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 11, 2024

ClinVar Genomic variation as it relates to human health

NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Conditions - Somatic

Submissions - Somatic

Citations for somatic classification of this variant

Text-mined citations for rs397514698 ...