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NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) AND multiple conditions

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:
RCV001535730.10

Allele description [Variation Report for NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)]

NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)

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.1981G>A (p.Gly661Ser)
Other names:
p.Gly661Ser
HGVS:
  • NC_000009.12:g.136515323C>T
  • NG_007458.1:g.35464G>A
  • NM_017617.5:c.1981G>AMANE SELECT
  • NP_060087.3:p.Gly661Ser
  • LRG_1122t1:c.1981G>A
  • LRG_1122:g.35464G>A
  • LRG_1122p1:p.Gly661Ser
  • NC_000009.11:g.139409775C>T
  • NM_017617.3:c.1981G>A
Protein change:
G661S
Links:
dbSNP: rs201077220
NCBI 1000 Genomes Browser:
rs201077220
Molecular consequence:
  • NM_017617.5:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Adams-Oliver syndrome 2 (AOS2)
Identifiers:
MONDO: MONDO:0013635; MedGen: C3280182; Orphanet: 974; OMIM: 614219
Name:
Aortic valve disorder (AOVD1)
Synonyms:
AORTIC VALVE DISEASE
Identifiers:
MONDO: MONDO:0003803; MedGen: C1260873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749832GenomeConnect - Invitae Patient Insights Network
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 - Invitae Patient Insights Network, SCV001749832.2

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

Description

Variant interpreted as Uncertain significance and reported on 10-28-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Nov 24, 2024