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NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) AND NOTCH1-Related Disorders

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000709909.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)]

NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)

Gene:
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
HGVS:
  • NC_000009.12:g.136523731G>A
  • NG_007458.1:g.27056C>T
  • NM_017617.5:c.389C>TMANE SELECT
  • NP_060087.3:p.Pro130Leu
  • LRG_1122t1:c.389C>T
  • LRG_1122:g.27056C>T
  • LRG_1122p1:p.Pro130Leu
  • NC_000009.11:g.139418183G>A
  • NM_017617.3:c.389C>T
Protein change:
P130L
Links:
dbSNP: rs750539322
NCBI 1000 Genomes Browser:
rs750539322
Molecular consequence:
  • NM_017617.5:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
NOTCH1-Related Disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840250GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Feb 20, 2024