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NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Aug 27, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000077957.18

Allele description [Variation Report for NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)]

NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser)
HGVS:
  • NC_000023.11:g.153740599C>A
  • NG_009022.2:g.20732C>A
  • NM_000033.4:c.1660C>AMANE SELECT
  • NP_000024.2:p.Arg554Ser
  • NP_000024.2:p.Arg554Ser
  • LRG_1017t1:c.1660C>A
  • LRG_1017:g.20732C>A
  • LRG_1017p1:p.Arg554Ser
  • NC_000023.10:g.153006053C>A
  • NM_000033.3:c.1660C>A
Protein change:
R554S
Links:
dbSNP: rs398123104
NCBI 1000 Genomes Browser:
rs398123104
Molecular consequence:
  • NM_000033.4:c.1660C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000109786Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(Jun 15, 2015) 		germlineclinical testing

Citation Link,

SCV003936356GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Aug 27, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109786.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV003936356.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD)

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

Last Updated: Nov 3, 2024