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NM_002485.5(NBN):c.797C>T (p.Pro266Leu) AND Acute lymphoid leukemia

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 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:
RCV003315763.8

Allele description [Variation Report for NM_002485.5(NBN):c.797C>T (p.Pro266Leu)]

NM_002485.5(NBN):c.797C>T (p.Pro266Leu)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
Other names:
p.P266L:CCG>CTG; NP_002476.2:p.Pro266Leu
HGVS:
  • NC_000008.11:g.89970463G>A
  • NG_008860.1:g.19209C>T
  • NM_001024688.3:c.551C>T
  • NM_002485.5:c.797C>TMANE SELECT
  • NP_001019859.1:p.Pro184Leu
  • NP_002476.2:p.Pro266Leu
  • NP_002476.2:p.Pro266Leu
  • LRG_158t1:c.797C>T
  • LRG_158:g.19209C>T
  • LRG_158p1:p.Pro266Leu
  • NC_000008.10:g.90982691G>A
  • NM_002485.4:c.797C>T
  • O60934:p.Pro266Leu
  • p.P266L
Protein change:
P184L
Links:
UniProtKB: O60934#VAR_025801; dbSNP: rs769420
NCBI 1000 Genomes Browser:
rs769420
Molecular consequence:
  • NM_001024688.3:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002485.5:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute lymphoid leukemia (ALL)
Synonyms:
Acute lymphoblastic leukemia; Leukemia, acute lymphoblastic, somatic; Lymphoblastic leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0004967; MedGen: C0023449; Orphanet: 513; OMIM: 613065; Human Phenotype Ontology: HP:0006721

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004016054KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016054.1

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

Last Updated: Nov 3, 2024