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NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 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:
RCV002479705.1

Allele description [Variation Report for NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)]

NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)

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.3542G>A (p.Arg1181Lys)
HGVS:
  • NC_000020.11:g.10639613C>T
  • NG_007496.1:g.39434G>A
  • NM_000214.3:c.3542G>AMANE SELECT
  • NP_000205.1:p.Arg1181Lys
  • LRG_1191t1:c.3542G>A
  • LRG_1191:g.39434G>A
  • LRG_1191p1:p.Arg1181Lys
  • NC_000020.10:g.10620261C>T
  • NM_000214.2:c.3542G>A
Protein change:
R1181K
Links:
dbSNP: rs758788135
NCBI 1000 Genomes Browser:
rs758788135
Molecular consequence:
  • NM_000214.3:c.3542G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002794426Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 8, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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, SCV002794426.1

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

Last Updated: Nov 24, 2024