NM_002485.5(NBN):c.2202A>G (p.Ala734=) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Mar 1, 2024
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:: RCV000123213.37

Allele description [Variation Report for NM_002485.5(NBN):c.2202A>G (p.Ala734=)]

NM_002485.5(NBN):c.2202A>G (p.Ala734=)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.2202A>G (p.Ala734=)

Other names:

p.A734A:GCA>GCG

HGVS:

NC_000008.11:g.89937058T>C
NG_008860.1:g.52614A>G
NM_001024688.3:c.1956A>G
NM_002485.5:c.2202A>GMANE SELECT
NP_001019859.1:p.Ala652=
NP_002476.2:p.Ala734=
NP_002476.2:p.Ala734=
LRG_158t1:c.2202A>G
LRG_158:g.52614A>G
LRG_158p1:p.Ala734=
NC_000008.10:g.90949286T>C
NM_002485.4:c.2202A>G
p.A734A

Links:

dbSNP: rs200452212

NCBI 1000 Genomes Browser:

rs200452212

Molecular consequence:

NM_001024688.3:c.1956A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_002485.5:c.2202A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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transmembrane protein, putative (DUF594) [Arabidopsis thaliana]
transmembrane protein, putative (DUF594) [Arabidopsis thaliana]
gi|15242428|ref|NP_199366.1|

Protein
Cuphea strigulosa isolate 2009-B45 tRNA-Leu (trnL) gene, partial sequence; trnL-...
Cuphea strigulosa isolate 2009-B45 tRNA-Leu (trnL) gene, partial sequence; trnL-trnF intergenic spacer, complete sequence; and tRNA-Phe (trnF) gene, partial sequence; chloroplast
gi|299831293|gb|HM099584.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001155443	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2024)	germline	clinical testing	Citation Link,
SCV002047199	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (May 28, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17894553, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001155443

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Mar 1, 2024)

germline

clinical testing

Citation Link,

SCV002047199

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(May 28, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.

Ziólkowska I, Mosor M, Wierzbicka M, Rydzanicz M, Pernak-Schwarz M, Nowak J.

Cancer Sci. 2007 Nov;98(11):1701-5.

PubMed [citation]

PMID:: 17894553
PMCID:: PMC11158328

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001155443.27

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided

Description

NBN: BP4, BP7

#	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		6	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Oct 20, 2024

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