NM_002485.5(NBN):c.1893A>G (p.Leu631=) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 13, 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:: RCV000435708.4

Allele description [Variation Report for NM_002485.5(NBN):c.1893A>G (p.Leu631=)]

NM_002485.5(NBN):c.1893A>G (p.Leu631=)

Genes:

LOC126860438:MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 [Gene]
NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.1893A>G (p.Leu631=)

HGVS:

NC_000008.11:g.89947845T>C
NG_008860.1:g.41827A>G
NM_001024688.3:c.1647A>G
NM_002485.5:c.1893A>GMANE SELECT
NP_001019859.1:p.Leu549=
NP_002476.2:p.Leu631=
NP_002476.2:p.Leu631=
LRG_158t1:c.1893A>G
LRG_158:g.41827A>G
LRG_158p1:p.Leu631=
NC_000008.10:g.90960073T>C
NM_002485.4:c.1893A>G

Links:

dbSNP: rs778364604

NCBI 1000 Genomes Browser:

rs778364604

Molecular consequence:

NM_001024688.3:c.1647A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_002485.5:c.1893A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001362624	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Jul 13, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001362624

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Jul 13, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362624.1

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine