NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 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:
RCV001007621.3

Allele description [Variation Report for NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)]

NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)

Gene:
HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)
HGVS:
  • NC_000005.10:g.140677029_140677031dup
  • NG_032158.1:g.19357_19359dup
  • NM_001258040.3:c.790_792dup
  • NM_001258041.3:c.850_852dup
  • NM_001258042.3:c.730_732dup
  • NM_001289092.2:c.688_690dup
  • NM_001289093.2:c.568_570dup
  • NM_001289094.2:c.823_825dup
  • NM_002109.6:c.910_912dupMANE SELECT
  • NP_001244969.1:p.Leu265dup
  • NP_001244970.1:p.Leu285dup
  • NP_001244971.1:p.Leu245dup
  • NP_001276021.1:p.Leu231dup
  • NP_001276022.1:p.Leu191dup
  • NP_001276023.1:p.Leu276dup
  • NP_002100.2:p.Leu305dup
  • LRG_1374t1:c.910_912dup
  • LRG_1374:g.19357_19359dup
  • LRG_1374p1:p.Leu305dup
  • NC_000005.9:g.140056614_140056616dup
  • NM_002109.6:c.910_912dupTTGMANE SELECT
Links:
dbSNP: rs1581504953
NCBI 1000 Genomes Browser:
rs1581504953
Molecular consequence:
  • NM_001258040.3:c.790_792dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001258041.3:c.850_852dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001258042.3:c.730_732dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289092.2:c.688_690dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289093.2:c.568_570dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289094.2:c.823_825dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_002109.6:c.910_912dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Cerebellar ataxia
Identifiers:
MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Scoliosis
Identifiers:
MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Name:
Dysarthria
Identifiers:
MedGen: C0013362; Human Phenotype Ontology: HP:0001260
Name:
Pes planus
Synonyms:
flatfoot
Identifiers:
MONDO: MONDO:0005293; MedGen: C0016202; Human Phenotype Ontology: HP:0001763
Name:
Urinary urgency
Identifiers:
MedGen: C0085606; Human Phenotype Ontology: HP:0000012
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Joint laxity
Identifiers:
MedGen: C0086437
Name:
Hammertoe
Identifiers:
MedGen: C1136179; Human Phenotype Ontology: HP:0001765
Name:
Distal muscle weakness
Identifiers:
MedGen: C0427065; Human Phenotype Ontology: HP:0002460

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001142642Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2019) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

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 Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, SCV001142642.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024