NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) AND not specified

Clinical significance:Benign/Likely benign

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:
RCV000118371.5

Allele description [Variation Report for NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)]

NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)

Genes:
MIF4GD-DT:MIF4GD divergent transcript [Gene - HGNC]
SLC25A19:solute carrier family 25 member 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)
HGVS:
  • NC_000017.11:g.75273595C>T
  • NG_008274.1:g.20855G>A
  • NM_001126121.2:c.819G>AMANE SELECT
  • NM_001126122.1:c.819G>A
  • NM_021734.4:c.819G>A
  • NP_001119593.1:p.Leu273=
  • NP_001119594.1:p.Leu273=
  • NP_068380.3:p.Leu273=
  • NC_000017.10:g.73269676C>T
  • NM_001126121.1:c.819G>A
  • NR_036520.1:n.2297C>T
Links:
dbSNP: rs4789164
NCBI 1000 Genomes Browser:
rs4789164
Molecular consequence:
  • NR_036520.1:n.2297C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001126121.2:c.819G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126122.1:c.819G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021734.4:c.819G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000152771Genetic Services Laboratory, University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV001740240Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000152771.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740240.3

#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: Sep 18, 2021

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