NM_002485.5(NBN):c.506G>A (p.Arg169His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 12, 2021
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:: RCV000214523.4

Allele description [Variation Report for NM_002485.5(NBN):c.506G>A (p.Arg169His)]

NM_002485.5(NBN):c.506G>A (p.Arg169His)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.506G>A (p.Arg169His)

HGVS:

NC_000008.11:g.89978298C>T
NG_008860.1:g.11374G>A
NM_001024688.3:c.260G>A
NM_002485.5:c.506G>AMANE SELECT
NP_001019859.1:p.Arg87His
NP_002476.2:p.Arg169His
NP_002476.2:p.Arg169His
LRG_158t1:c.506G>A
LRG_158:g.11374G>A
LRG_158p1:p.Arg169His
NC_000008.10:g.90990526C>T
NM_002485.4:c.506G>A
p.R169H

Protein change:

R169H

Links:

dbSNP: rs776134250

NCBI 1000 Genomes Browser:

rs776134250

Molecular consequence:

NM_001024688.3:c.260G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002485.5:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279532	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279532

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 12, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000279532.9

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer (Hauke 2018, Momozawa 2018); Observed in an individual with symptoms overlapping with Nijmegen Breakage syndrome, however, this individual also carried compound heterozygous truncating variants in the RAD50 gene, to which the authors attributed the patient's phenotype (Waltes 2009); This variant is associated with the following publications: (PMID: 19409520, 30287823, 29522266, 32501622)

#	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

Last Updated: Dec 30, 2023

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