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NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 29, 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:
RCV003323479.8

Allele description [Variation Report for NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)]

NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)

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.4887C>T (p.His1629=)
HGVS:
  • NC_000009.12:g.136504804G>A
  • NG_007458.1:g.45983C>T
  • NM_017617.5:c.4887C>TMANE SELECT
  • NP_060087.3:p.His1629=
  • LRG_1122t1:c.4887C>T
  • LRG_1122:g.45983C>T
  • LRG_1122p1:p.His1629=
  • NC_000009.11:g.139399256G>A
  • NM_017617.3:c.4887C>T
  • NM_017617.4:c.4887C>T
Links:
dbSNP: rs61751539
NCBI 1000 Genomes Browser:
rs61751539
Molecular consequence:
  • NM_017617.5:c.4887C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004029498Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Jul 29, 2023) 		germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Recurrent mutations refine prognosis in chronic lymphocytic leukemia.

Baliakas P, Hadzidimitriou A, Sutton LA, Rossi D, Minga E, Villamor N, Larrayoz M, Kminkova J, Agathangelidis A, Davis Z, Tausch E, Stalika E, Kantorova B, Mansouri L, Scarfò L, Cortese D, Navrkalova V, Rose-Zerilli MJ, Smedby KE, Juliusson G, Anagnostopoulos A, Makris AM, et al.

Leukemia. 2015 Feb;29(2):329-36. doi: 10.1038/leu.2014.196. Epub 2014 Jun 19.

PubMed [citation]
PMID:
24943832

Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia.

Breit S, Stanulla M, Flohr T, Schrappe M, Ludwig WD, Tolle G, Happich M, Muckenthaler MU, Kulozik AE.

Blood. 2006 Aug 15;108(4):1151-7. Epub 2006 Apr 13.

PubMed [citation]
PMID:
16614245
See all PubMed Citations (12)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024