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NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys) AND Bruck syndrome 2

Germline classification:
Uncertain significance (1 submission)
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:
RCV000656731.1

Allele description [Variation Report for NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)]

NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)

Gene:
PLOD2:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)
HGVS:
  • NC_000003.12:g.146091878G>T
  • NG_009251.1:g.74618C>A
  • NM_000935.3:c.801C>A
  • NM_182943.3:c.801C>AMANE SELECT
  • NP_000926.2:p.Asn267Lys
  • NP_891988.1:p.Asn267Lys
  • NC_000003.11:g.145809665G>T
  • NM_182943.2:c.801C>A
Protein change:
N267K
Links:
dbSNP: rs771710305
NCBI 1000 Genomes Browser:
rs771710305
Molecular consequence:
  • NM_000935.3:c.801C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182943.3:c.801C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Bruck syndrome 2 (BRKS2)
Synonyms:
OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Identifiers:
MONDO: MONDO:0012217; MedGen: C1836602; Orphanet: 2771; OMIM: 609220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778453Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000778453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022