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NM_002485.5(NBN):c.871C>T (p.Gln291Ter) AND Premature ovarian insufficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 2017
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:
RCV000656225.2

Allele description [Variation Report for NM_002485.5(NBN):c.871C>T (p.Gln291Ter)]

NM_002485.5(NBN):c.871C>T (p.Gln291Ter)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)
HGVS:
  • NC_000008.11:g.89970389G>A
  • NG_008860.1:g.19283C>T
  • NM_001024688.3:c.625C>T
  • NM_002485.5:c.871C>TMANE SELECT
  • NP_001019859.1:p.Gln209Ter
  • NP_002476.2:p.Gln291Ter
  • NP_002476.2:p.Gln291Ter
  • LRG_158t1:c.871C>T
  • LRG_158:g.19283C>T
  • LRG_158p1:p.Gln291Ter
  • NC_000008.10:g.90982617G>A
  • NM_002485.4:c.871C>T
Protein change:
Q209*
Links:
dbSNP: rs1554563822
NCBI 1000 Genomes Browser:
rs1554563822
Molecular consequence:
  • NM_001024688.3:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002485.5:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Premature ovarian insufficiency
Synonyms:
Premature menopause
Identifiers:
MONDO: MONDO:0001119; MedGen: C0025322; Human Phenotype Ontology: HP:0008209

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692468Reproductive Development, Murdoch Childrens Research Institute
no assertion criteria provided
Pathogenic
(Jan 15, 2017) 		germline, unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedresearch
not providedunknownno1not providednot provided1not providedresearch

Citations

PubMed

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Tucker EJ, Grover SR, Robevska G, van den Bergen J, Hanna C, Sinclair AH.

Eur J Hum Genet. 2018 Sep;26(9):1319-1328. doi: 10.1038/s41431-018-0140-4. Epub 2018 Apr 30.

PubMed [citation]
PMID:
29706645
PMCID:
PMC6117257

Details of each submission

From Reproductive Development, Murdoch Childrens Research Institute, SCV000692468.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2unknownno1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024