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NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 12, 2014
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:
RCV000415434.2

Allele description [Variation Report for NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)]

NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)

Gene:
TYROBP:transmembrane immune signaling adaptor TYROBP [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)
HGVS:
  • NC_000019.10:g.35907730C>T
  • NG_009304.1:g.5555G>A
  • NM_001173514.2:c.62-150G>A
  • NM_001173515.2:c.62-150G>A
  • NM_003332.4:c.94G>AMANE SELECT
  • NM_198125.3:c.94G>A
  • NP_003323.1:p.Asp32Asn
  • NP_003323.1:p.Asp32Asn
  • NP_937758.1:p.Asp32Asn
  • LRG_607t1:c.94G>A
  • LRG_607:g.5555G>A
  • LRG_607p1:p.Asp32Asn
  • NC_000019.9:g.36398632C>T
  • NM_003332.3:c.94G>A
Protein change:
D32N
Links:
dbSNP: rs758290972
NCBI 1000 Genomes Browser:
rs758290972
Molecular consequence:
  • NM_001173514.2:c.62-150G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001173515.2:c.62-150G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003332.4:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198125.3:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Memory impairment
Identifiers:
MedGen: C0233794; Human Phenotype Ontology: HP:0002354
Name:
Cerebellar atrophy
Identifiers:
MedGen: C0740279; Human Phenotype Ontology: HP:0001272
Name:
Parkinsonian disorder
Synonyms:
Parkinsonism
Identifiers:
MONDO: MONDO:0021095; MedGen: C0242422; Human Phenotype Ontology: HP:0001300
Name:
Bradykinesia
Identifiers:
MedGen: C0233565; Human Phenotype Ontology: HP:0002067
Name:
Cerebral cortical atrophy
Identifiers:
MedGen: C4551583; Human Phenotype Ontology: HP:0002120
Name:
Caudate atrophy
Identifiers:
MedGen: C1858116; Human Phenotype Ontology: HP:0002340
Name:
Action tremor
Identifiers:
MedGen: C0234376; Human Phenotype Ontology: HP:0002345
Name:
Frontotemporal cerebral atrophy
Identifiers:
MedGen: C4021584; Human Phenotype Ontology: HP:0006892
Name:
Dementia
Identifiers:
MONDO: MONDO:0001627; MedGen: C0497327; Human Phenotype Ontology: HP:0000726

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492895Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 12, 2014) 		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, SCV000492895.1

#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: Sep 29, 2024