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NM_002485.5(NBN):c.2197C>G (p.His733Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2020
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:
RCV000771688.5

Allele description [Variation Report for NM_002485.5(NBN):c.2197C>G (p.His733Asp)]

NM_002485.5(NBN):c.2197C>G (p.His733Asp)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.2197C>G (p.His733Asp)
HGVS:
  • NC_000008.11:g.89937063G>C
  • NG_008860.1:g.52609C>G
  • NM_001024688.3:c.1951C>G
  • NM_002485.5:c.2197C>GMANE SELECT
  • NP_001019859.1:p.His651Asp
  • NP_002476.2:p.His733Asp
  • NP_002476.2:p.His733Asp
  • LRG_158t1:c.2197C>G
  • LRG_158:g.52609C>G
  • LRG_158p1:p.His733Asp
  • NC_000008.10:g.90949291G>C
  • NM_002485.4:c.2197C>G
Protein change:
H651D
Links:
dbSNP: rs1311278427
NCBI 1000 Genomes Browser:
rs1311278427
Molecular consequence:
  • NM_001024688.3:c.1951C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002485.5:c.2197C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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    JGI_XZG49410.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7563980 5', mRNA sequence
    gi|72205113|gnl|dbEST|30664473|gb|C 17.2|
    Nucleotide
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002730692Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002730692.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.H733D variant (also known as c.2197C>G), located in coding exon 15 of the NBN gene, results from a C to G substitution at nucleotide position 2197. The histidine at codon 733 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024