NM_003680.4(YARS1):c.177T>G (p.Ile59Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001507949.2

Allele description [Variation Report for NM_003680.4(YARS1):c.177T>G (p.Ile59Met)]

NM_003680.4(YARS1):c.177T>G (p.Ile59Met)

Gene:
YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p35.1
Genomic location:
Preferred name:
NM_003680.4(YARS1):c.177T>G (p.Ile59Met)
HGVS:
  • NC_000001.11:g.32810938A>C
  • NG_008408.1:g.12095T>G
  • NM_003680.4:c.177T>GMANE SELECT
  • NP_003671.1:p.Ile59Met
  • NP_003671.1:p.Ile59Met
  • LRG_273t1:c.177T>G
  • LRG_273:g.12095T>G
  • LRG_273p1:p.Ile59Met
  • NC_000001.10:g.33276539A>C
  • NM_003680.3:c.177T>G
  • p.Ile59Met
Protein change:
I59M
Links:
dbSNP: rs1240096439
NCBI 1000 Genomes Browser:
rs1240096439
Molecular consequence:
  • NM_003680.4:c.177T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001713807Mayo Clinic Laboratories,Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Jul 17, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Mayo Clinic Laboratories,Mayo Clinic, SCV001713807.1

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

Last Updated: Dec 4, 2021

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