NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000579124.2

Allele description [Variation Report for NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)]

NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
HGVS:
  • NC_000001.11:g.75762754C>A
  • NG_007045.2:g.43397C>A
  • NM_000016.5:c.1257C>A
  • NM_000016.6:c.1257C>AMANE SELECT
  • NM_001127328.3:c.1269C>A
  • NM_001286042.2:c.1149C>A
  • NM_001286043.2:c.1356C>A
  • NM_001286044.2:c.690C>A
  • NP_000007.1:p.Tyr419Ter
  • NP_000007.1:p.Tyr419Ter
  • NP_001120800.1:p.Tyr423Ter
  • NP_001272971.1:p.Tyr383Ter
  • NP_001272972.1:p.Tyr452Ter
  • NP_001272973.1:p.Tyr230Ter
  • LRG_838t1:c.1257C>A
  • LRG_838:g.43397C>A
  • LRG_838p1:p.Tyr419Ter
  • NC_000001.10:g.76228439C>A
  • NM_000016.4:c.1257C>A
Protein change:
Y230*
Links:
dbSNP: rs753928772
NCBI 1000 Genomes Browser:
rs753928772
Molecular consequence:
  • NM_000016.5:c.1257C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000016.6:c.1257C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127328.3:c.1269C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286042.2:c.1149C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286043.2:c.1356C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286044.2:c.690C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680494GeneDxcriteria provided, single submitter
Pathogenic
(Jan 7, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000680494.1

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

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 3 amino acids are lost; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20036593)

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

Last Updated: Oct 25, 2021

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