NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 21, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000599705.8

Allele description [Variation Report for NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)]

NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)

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.5445C>T (p.Asp1815=)

HGVS:

NC_000009.12:g.136502028G>A
NG_007458.1:g.48759C>T
NM_017617.5:c.5445C>TMANE SELECT
NP_060087.3:p.Asp1815=
LRG_1122t1:c.5445C>T
LRG_1122:g.48759C>T
LRG_1122p1:p.Asp1815=
NC_000009.11:g.139396480G>A
NM_017617.3:c.5445C>T
NM_017617.4:c.5445C>T

Links:

dbSNP: rs61751535

NCBI 1000 Genomes Browser:

rs61751535

Molecular consequence:

NM_017617.5:c.5445C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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12479[uid] AND (alive[prop]) (1)
Gene
Cd1d1 CD1d1 antigen [Mus musculus]
Cd1d1 CD1d1 antigen [Mus musculus]
Gene ID:12479

Gene
Chain D, Dna-directed Rna Polymerase Iii Subunit Rpc9
Chain D, Dna-directed Rna Polymerase Iii Subunit Rpc9
gi|955265158|pdb|5FJA|D

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000714268	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 18, 2017)	germline	clinical testing	Citation Link,
SCV004029551	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Jul 21, 2023)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 24943832, 16614245, 21670202, 22210878, 19635999, 26837699, 23086750, 19245433, 22077063, 15472075, 23734977, 22858860 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000714268

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jan 18, 2017)

germline

clinical testing

Citation Link,

SCV004029551

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Jul 21, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 GeneDx, SCV000714268.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029551.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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