NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 26, 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:: RCV000657733.4

Allele description [Variation Report for NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)]

NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)

HGVS:

NC_000008.11:g.89953587C>T
NG_008860.1:g.36085G>A
NM_001024688.3:c.1256G>A
NM_002485.5:c.1502G>AMANE SELECT
NP_001019859.1:p.Trp419Ter
NP_002476.2:p.Trp501Ter
NP_002476.2:p.Trp501Ter
LRG_158t1:c.1502G>A
LRG_158:g.36085G>A
LRG_158p1:p.Trp501Ter
NC_000008.10:g.90965815C>T
NM_002485.4:c.1502G>A

Protein change:

W419*

Links:

dbSNP: rs1554558472

NCBI 1000 Genomes Browser:

rs1554558472

Molecular consequence:

NM_001024688.3:c.1256G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_002485.5:c.1502G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=U6 snRNA-associated Sm-like protein LSm2
RecName: Full=U6 snRNA-associated Sm-like protein LSm2
gi|59799782|sp|O94408.1|LSM2_SCHPO

Protein
Thamnomanes ardesiacus isolate P2_14 cytocrome b (CYTB) gene, partial cds; mitoc...
Thamnomanes ardesiacus isolate P2_14 cytocrome b (CYTB) gene, partial cds; mitochondrial
gi|1635548487|gb|MG774583.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779483	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 26, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779483

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Oct 26, 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, SCV000779483.4

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 29, 2024

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