NM_002485.5(NBN):c.278C>T (p.Ser93Leu) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 12, 2022
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:: RCV000586867.10

Allele description [Variation Report for NM_002485.5(NBN):c.278C>T (p.Ser93Leu)]

NM_002485.5(NBN):c.278C>T (p.Ser93Leu)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.278C>T (p.Ser93Leu)

Other names:

p.S93L:TCG>TTG

HGVS:

NC_000008.11:g.89981417G>A
NG_008860.1:g.8255C>T
NM_001024688.3:c.32C>T
NM_002485.5:c.278C>TMANE SELECT
NP_001019859.1:p.Ser11Leu
NP_002476.2:p.Ser93Leu
NP_002476.2:p.Ser93Leu
LRG_158t1:c.278C>T
LRG_158:g.8255C>T
LRG_158p1:p.Ser93Leu
NC_000008.10:g.90993645G>A
NM_002485.4:c.278C>T
O60934:p.Ser93Leu
p.S93L

Protein change:

S11L

Links:

UniProtKB: O60934#VAR_025792; dbSNP: rs12721593

NCBI 1000 Genomes Browser:

rs12721593

Molecular consequence:

NM_001024688.3:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002485.5:c.278C>T - 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
SCV000211471	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 23, 2020)	germline	clinical testing	Citation Link,
SCV003800289	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Likely benign (Sep 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000211471

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Dec 23, 2020)

germline

clinical testing

Citation Link,

SCV003800289

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Likely benign
(Sep 12, 2022)

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

Details of each submission

From GeneDx, SCV000211471.12

#	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 associated with the following publications: (PMID: 25980754, 11325820, 14559852, 28135145, 25176580, 19452044, 15279809, 26315354, 31278556, 31159747)

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003800289.2

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

#	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 29, 2024

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