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NM_014324.5(AMACR):c.-70G>A AND Alpha-methylacyl-CoA racemase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000278509.14

Allele description [Variation Report for NM_014324.5(AMACR):c.-70G>A]

NM_014324.5(AMACR):c.-70G>A

Genes:
AMACR:alpha-methylacyl-CoA racemase [Gene - OMIM - HGNC]
C1QTNF3-AMACR:C1QTNF3-AMACR readthrough (NMD candidate) [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_014324.5(AMACR):c.-70G>A
HGVS:
  • NC_000005.10:g.34008089C>T
  • NG_016211.1:g.5027G>A
  • NG_173226.1:g.3C>T
  • NM_001167595.1:c.-70G>A
  • NM_014324.5:c.-70G>A
  • NM_203382.2:c.-70G>A
  • NC_000005.9:g.34008194C>T
Links:
dbSNP: rs563347179
NCBI 1000 Genomes Browser:
rs563347179

Condition(s)

Name:
Alpha-methylacyl-CoA racemase deficiency (AMACRD)
Synonyms:
AMACR deficiency
Identifiers:
MONDO: MONDO:0013681; MedGen: C3280428; Orphanet: 79095; OMIM: 614307

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000457135Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000457135.2

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

Last Updated: Nov 3, 2024