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NM_002317.7(LOX):c.760G>A (p.Val254Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2018
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:
RCV000735872.3

Allele description [Variation Report for NM_002317.7(LOX):c.760G>A (p.Val254Ile)]

NM_002317.7(LOX):c.760G>A (p.Val254Ile)

Genes:
LOX:lysyl oxidase [Gene - OMIM - HGNC]
SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
NM_002317.7(LOX):c.760G>A (p.Val254Ile)
HGVS:
  • NC_000005.10:g.122075522C>T
  • NG_008722.1:g.7839G>A
  • NM_001178102.2:c.70G>A
  • NM_001317073.1:c.-132G>A
  • NM_002317.7:c.760G>AMANE SELECT
  • NP_001171573.1:p.Val24Ile
  • NP_002308.2:p.Val254Ile
  • NC_000005.9:g.121411217C>T
Protein change:
V24I
Links:
dbSNP: rs575190694
NCBI 1000 Genomes Browser:
rs575190694
Molecular consequence:
  • NM_001317073.1:c.-132G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001178102.2:c.70G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002317.7:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Pleural effusion
Identifiers:
MedGen: C0032227; Human Phenotype Ontology: HP:0002202
Name:
Interphalangeal joint contracture of finger
Identifiers:
MedGen: C4021784; Human Phenotype Ontology: HP:0001220
Name:
Emphysema
Synonyms:
Pulmonary emphysema
Identifiers:
MONDO: MONDO:0004849; MedGen: C0034067; Human Phenotype Ontology: HP:0002097
Name:
Increased number of skin folds
Identifiers:
MedGen: C4024853; Human Phenotype Ontology: HP:0007522

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864078Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesresearch

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 Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV000864078.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1fetus sample after autopsydiscovery1not providednot providednot provided

Last Updated: May 7, 2024