NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) AND Juvenile nasopharyngeal angiofibroma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 30, 2021
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:: RCV002221234.1

Allele description [Variation Report for NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)]

NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)

Genes:

LOC126806658:BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 [Gene]
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

Preferred name:

NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)

HGVS:

NC_000003.12:g.41224606G>A
NG_013302.2:g.30156G>A
NM_001098209.2:c.94G>A
NM_001098210.2:c.94G>A
NM_001330729.2:c.73G>A
NM_001904.4:c.94G>AMANE SELECT
NP_001091679.1:p.Asp32Asn
NP_001091680.1:p.Asp32Asn
NP_001317658.1:p.Asp25Asn
NP_001895.1:p.Asp32Asn
LRG_1108t1:c.94G>A
LRG_1108:g.30156G>A
LRG_1108p1:p.Asp32Asn
NC_000003.11:g.41266097G>A
NM_001904.3:c.94G>A

Protein change:

D25N

Links:

dbSNP: rs28931588

NCBI 1000 Genomes Browser:

rs28931588

Molecular consequence:

NM_001098209.2:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001098210.2:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330729.2:c.73G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001904.4:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Juvenile nasopharyngeal angiofibroma
Identifiers:: MONDO: MONDO:0017340; MedGen: C1367536; Human Phenotype Ontology: HP:0030429

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002498594	Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 30, 2021)	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002498594

Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 30, 2021)

somatic

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002498594.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was identified in 23% of reads, consistent with somatic origin. To our knowledge, this variant has not previously been reported in juvenile nasopharyngeal angiofibroma (JNA), but this is an oncogenic variant found in multiple tumor types (COSMIC and cBioPortal Databases).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 28, 2024

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