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NM_000214.3(JAG1):c.694+1G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 21, 2023
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:
RCV000216385.2

Allele description [Variation Report for NM_000214.3(JAG1):c.694+1G>A]

NM_000214.3(JAG1):c.694+1G>A

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.694+1G>A
HGVS:
  • NC_000020.11:g.10658467C>T
  • NG_007496.1:g.20580G>A
  • NM_000214.3:c.694+1G>AMANE SELECT
  • LRG_1191t1:c.694+1G>A
  • LRG_1191:g.20580G>A
  • NC_000020.10:g.10639115C>T
  • NM_000214.2:c.694+1G>A
Links:
dbSNP: rs876660979
NCBI 1000 Genomes Browser:
rs876660979
Molecular consequence:
  • NM_000214.3:c.694+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000278988GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Sep 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000278988.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33763395)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023