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NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu) AND Bone fragility with contractures, arterial rupture, and deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 14, 2019
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:
RCV000761553.2

Allele description [Variation Report for NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)]

NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)

Gene:
PLOD3:procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)
HGVS:
  • NC_000007.14:g.101212912G>A
  • NG_012148.1:g.9819C>T
  • NM_001084.5:c.809C>TMANE SELECT
  • NP_001075.1:p.Pro270Leu
  • NC_000007.13:g.100856193G>A
  • NM_001084.4:c.809C>T
Protein change:
P270L
Links:
dbSNP: rs1562894320
NCBI 1000 Genomes Browser:
rs1562894320
Molecular consequence:
  • NM_001084.5:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
variation affecting protein function [Variation Ontology: 0003]
Observations:
1

Condition(s)

Name:
Bone fragility with contractures, arterial rupture, and deafness
Synonyms:
LH3 DEFICIENCY; LYSYL HYDROXYLASE 3 DEFICIENCY; BCARD SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012892; MedGen: C2676285; OMIM: 612394

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  • Oxidative Stress
    Oxidative Stress
    A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxid...<br/>Year introduced: 1995
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000889949Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 14, 2019) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology, SCV000889949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024