NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del) AND Adrenoleukodystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 2021
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:: RCV001826897.1

Allele description [Variation Report for NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)]

NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)

Gene:

ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)

HGVS:

NC_000023.11:g.153736144AAG[1]
NG_009022.2:g.16277AAG[1]
NM_000033.4:c.1114AAG[1]MANE SELECT
NP_000024.2:p.Lys373del
LRG_1017t1:c.1114AAG[1]
LRG_1017:g.16277AAG[1]
LRG_1017p1:p.Lys373del
NC_000023.10:g.153001598AAG[1]
NM_000033.3:c.1117_1119delAAG
NM_000033.4:c.1117_1119delMANE SELECT

Protein change:

K373del

Links:

dbSNP: rs782627940

NCBI 1000 Genomes Browser:

rs782627940

Molecular consequence:

NM_000033.4:c.1114AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Adrenoleukodystrophy (ALD)
Synonyms:: ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018544; MedGen: C0162309; OMIM: 300100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002084623	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 20, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002084623

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 20, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002084623.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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