NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs) AND Aplastic anemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 4, 2023
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:: RCV003470290.1

Allele description [Variation Report for NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)]

NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)

HGVS:

NC_000008.11:g.89953523_89953524insTA
NG_008860.1:g.36148_36149insTA
NM_001024688.3:c.1319_1320insTA
NM_002485.5:c.1565_1566insTAMANE SELECT
NP_001019859.1:p.Leu440fs
NP_002476.2:p.Leu522Phefs
NP_002476.2:p.Leu522fs
LRG_158t1:c.1565_1566insTA
LRG_158:g.36148_36149insTA
LRG_158p1:p.Leu522Phefs
NC_000008.10:g.90965751_90965752insTA
NM_002485.4:c.1565_1566insTA

Protein change:

L440fs

Molecular consequence:

NM_001024688.3:c.1319_1320insTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002485.5:c.1565_1566insTA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Aplastic anemia
Identifiers:: MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915

Recent activity

Clear Turn Off Turn On

tzCryPall
tzCryPall
Cryptosula pallasiana (an encrusting bryozoan), genomic and transcriptomic data

BioProject
Mus musculus expressed sequence AI847670, mRNA (cDNA clone IMAGE:4977536)
Mus musculus expressed sequence AI847670, mRNA (cDNA clone IMAGE:4977536)
gi|29476803|gb|BC050111.1|

Nucleotide
Globosides
Globosides
Glycosphingolipids containing N-acetylglucosamine (paragloboside) or N-acetylgalactosamine (globoside). Globoside is the P antigen on erythrocytes and paragloboside is an inte...<br/>Year introduced: 1991(1979)

MeSH
Nuclear Pore
Nuclear Pore
An opening through the NUCLEAR ENVELOPE formed by the nuclear pore complex which transports nuclear proteins or RNA into or out of the CELL NUCLEUS and which, under some condi...<br/>Year introduced: 2001

MeSH
Cerebrosides
Cerebrosides
Neutral glycosphingolipids that contain a monosaccharide, normally glucose or galactose, in 1-ortho-beta-glycosidic linkage with the primary alcohol of an N-acyl sphingoid (ce...<br/>

MeSH

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
SCV004199544	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 4, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004199544

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 4, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004199544.1

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

#	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: Dec 30, 2023

ClinVar

Relating variation to medicine