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NM_002485.5(NBN):c.1525T>C (p.Ser509Pro) AND Microcephaly, normal intelligence and immunodeficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001279846.1

Allele description [Variation Report for NM_002485.5(NBN):c.1525T>C (p.Ser509Pro)]

NM_002485.5(NBN):c.1525T>C (p.Ser509Pro)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro)
HGVS:
  • NC_000008.11:g.89953564A>G
  • NG_008860.1:g.36108T>C
  • NM_001024688.3:c.1279T>C
  • NM_002485.5:c.1525T>CMANE SELECT
  • NP_001019859.1:p.Ser427Pro
  • NP_002476.2:p.Ser509Pro
  • LRG_158:g.36108T>C
  • NC_000008.10:g.90965792A>G
  • NM_002485.4:c.1525T>C
Protein change:
S427P
Links:
dbSNP: rs1810552588
NCBI 1000 Genomes Browser:
rs1810552588
Molecular consequence:
  • NM_001024688.3:c.1279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002485.5:c.1525T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Microcephaly, normal intelligence and immunodeficiency (NBS)
Synonyms:
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009623; MedGen: C0398791; Orphanet: 647; OMIM: 251260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001466977Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jul 2, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001466977.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024