NM_002485.5(NBN):c.2206G>A (p.Glu736Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2019
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:: RCV002425796.2

Allele description [Variation Report for NM_002485.5(NBN):c.2206G>A (p.Glu736Lys)]

NM_002485.5(NBN):c.2206G>A (p.Glu736Lys)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.2206G>A (p.Glu736Lys)

HGVS:

NC_000008.11:g.89937054C>T
NG_008860.1:g.52618G>A
NM_001024688.3:c.1960G>A
NM_002485.5:c.2206G>AMANE SELECT
NP_001019859.1:p.Glu654Lys
NP_002476.2:p.Glu736Lys
NP_002476.2:p.Glu736Lys
LRG_158t1:c.2206G>A
LRG_158:g.52618G>A
LRG_158p1:p.Glu736Lys
NC_000008.10:g.90949282C>T
NM_002485.4:c.2206G>A

Protein change:

E654K

Molecular consequence:

NM_001024688.3:c.1960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002485.5:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Gm3140 predicted gene 3140 [Mus musculus]
Gm3140 predicted gene 3140 [Mus musculus]
Gene ID:100041105

Gene
Gm3140 AND (alive[prop]) (1)
Gene
Adenosine Diphosphate
Adenosine Diphosphate
Adenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.<br/>Year introduced: 1973(1971)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002729566	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729566

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 1, 2019)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002729566.2

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

Description

The p.E736K variant (also known as c.2206G>A), located in coding exon 15 of the NBN gene, results from a G to A substitution at nucleotide position 2206. The glutamic acid at codon 736 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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