NM_003680.4(YARS1):c.40A>T (p.Ile14Phe) AND not provided

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001579564.2

Allele description [Variation Report for NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)]

NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)

Genes:
S100PBP:S100P binding protein [Gene - OMIM - HGNC]
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.40A>T (p.Ile14Phe)
HGVS:
  • NC_000001.11:g.32817205T>A
  • NG_008408.1:g.5828A>T
  • NG_031988.1:g.4764T>A
  • NM_003680.3:c.40A>T
  • NM_003680.4:c.40A>TMANE SELECT
  • NP_003671.1:p.Ile14Phe
  • NP_003671.1:p.Ile14Phe
  • LRG_273t1:c.40A>T
  • LRG_273:g.5828A>T
  • LRG_273p1:p.Ile14Phe
  • NC_000001.10:g.33282806T>A
Protein change:
I14F
Links:
dbSNP: rs763337272
NCBI 1000 Genomes Browser:
rs763337272
Molecular consequence:
  • NM_003680.3:c.40A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003680.4:c.40A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001807709Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

SCV001923938Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001923938.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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