NM_000214.3(JAG1):c.551G>A (p.Arg184His) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 12, 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:: RCV002476943.8

Allele description [Variation Report for NM_000214.3(JAG1):c.551G>A (p.Arg184His)]

NM_000214.3(JAG1):c.551G>A (p.Arg184His)

Gene:

JAG1:jagged canonical Notch ligand 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

Preferred name:

NM_000214.3(JAG1):c.551G>A (p.Arg184His)

HGVS:

NC_000020.11:g.10658611C>T
NG_007496.1:g.20436G>A
NM_000214.3:c.551G>AMANE SELECT
NP_000205.1:p.Arg184His
LRG_1191t1:c.551G>A
LRG_1191:g.20436G>A
LRG_1191p1:p.Arg184His
NC_000020.10:g.10639259C>T
NM_000214.2:c.551G>A
P78504:p.Arg184His

Protein change:

R184H; ARG184HIS

Links:

UniProtKB: P78504#VAR_013194; OMIM: 601920.0006; dbSNP: rs121918351

NCBI 1000 Genomes Browser:

rs121918351

Molecular consequence:

NM_000214.3:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Alagille syndrome due to a JAG1 point mutation
Synonyms:: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC; Alagille syndrome 1; JAG1-Related Alagille Syndrome
Identifiers:: MONDO: MONDO:0016862; MedGen: C1956125; Orphanet: 52; OMIM: 118450

Name:: Tetralogy of Fallot (TOF)
Synonyms:: Fallot tetralogy
Identifiers:: MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636

Name:: Deafness, congenital heart defects, and posterior embryotoxon (DCHE)
Identifiers:: MONDO: MONDO:0060713; MedGen: C1866053; OMIM: 617992

Name:: Charcot-Marie-Tooth disease, axonal, Type 2HH
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH; Charcot-Marie-Tooth disease, axonal, Type 2HH
Identifiers:: MONDO: MONDO:0030458; MedGen: C5562003; OMIM: 619574

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000894216	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 12, 2021)	unknown	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

SCV000894216

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 12, 2021)

unknown

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	unknown	unknown	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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894216.2

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

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

Last Updated: Oct 13, 2024

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