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NM_005164.4(ABCD2):c.292A>G (p.Lys98Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000676171.5

Allele description [Variation Report for NM_005164.4(ABCD2):c.292A>G (p.Lys98Glu)]

NM_005164.4(ABCD2):c.292A>G (p.Lys98Glu)

Gene:
ABCD2:ATP binding cassette subfamily D member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_005164.4(ABCD2):c.292A>G (p.Lys98Glu)
HGVS:
  • NC_000012.12:g.39619324T>C
  • NM_005164.4:c.292A>GMANE SELECT
  • NP_005155.1:p.Lys98Glu
  • NC_000012.11:g.40013126T>C
  • NM_005164.3:c.292A>G
Protein change:
K98E
Links:
dbSNP: rs373396030
NCBI 1000 Genomes Browser:
rs373396030
Molecular consequence:
  • NM_005164.4:c.292A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000801922Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Uncertain significance
(Oct 3, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801922.1

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

Last Updated: Jun 10, 2023