NM_002485.4(NBN):c.1089C>T (p.Tyr363=) AND Microcephaly, normal intelligence and immunodeficiency

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 6, 2017
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:: RCV000196191.4

Allele description

NM_002485.4(NBN):c.1089C>T (p.Tyr363=)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.4(NBN):c.1089C>T (p.Tyr363=)

Other names:

p.Y363Y:TAC>TAT

HGVS:

NC_000008.11:g.89958760G>A
NG_008860.1:g.30912C>T
NM_002485.4:c.1089C>T
NP_002476.2:p.Tyr363=
LRG_158t1:c.1089C>T
LRG_158:g.30912C>T
LRG_158p1:p.Tyr363=
NC_000008.10:g.90970988G>A
p.Y363Y

Links:

dbSNP: rs121908974

NCBI 1000 Genomes Browser:

rs121908974

Allele Frequency:

0.00003(A), GO-ESP

Molecular consequence:

NM_002485.4:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Microcephaly, normal intelligence and immunodeficiency (NBS)
Synonyms:: IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome
Identifiers:: MedGen: C0398791; Orphanet: 647; OMIM: 251260

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000253384	Invitae,	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000253384

Invitae,

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 6, 2017)

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 Invitae,, SCV000253384.4

#	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: Dec 19, 2017

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Relating variation to medicine