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NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626907.2

Allele description [Variation Report for NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)]

NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)

Gene:
KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)
HGVS:
  • NC_000023.11:g.70353686G>C
  • NG_016799.1:g.68658G>C
  • NM_012310.5:c.1553G>CMANE SELECT
  • NP_036442.3:p.Arg518Pro
  • NC_000023.10:g.69573536G>C
  • NM_012310.4:c.1553G>C
Protein change:
R518P
Links:
dbSNP: rs766819113
NCBI 1000 Genomes Browser:
rs766819113
Molecular consequence:
  • NM_012310.5:c.1553G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
Name:
Sleep abnormality
Synonyms:
Sleep disturbance; sleep difficulties
Identifiers:
MedGen: C0037317; Human Phenotype Ontology: HP:0002360
Name:
Pes planus
Synonyms:
flatfoot
Identifiers:
MONDO: MONDO:0005293; MedGen: C0016202; Human Phenotype Ontology: HP:0001763
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Horizontal nystagmus
Identifiers:
MedGen: C0271385; Human Phenotype Ontology: HP:0000666
Name:
Gynecomastia
Identifiers:
MONDO: MONDO:0001571; MedGen: C0018418; Human Phenotype Ontology: HP:0000771
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Poor motor coordination
Identifiers:
MedGen: C1848453; Human Phenotype Ontology: HP:0002275
Name:
Difficulty walking
Identifiers:
MedGen: C0311394; Human Phenotype Ontology: HP:0002355
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747610Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747610.1

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

Last Updated: Dec 9, 2023