NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 18, 2021
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:: RCV001663550.2

Allele description [Variation Report for NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del)]

NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del)

HGVS:

NC_000023.11:g.153743325_153743327del
NG_009022.2:g.23458_23460del
NM_000033.4:c.1970_1972delMANE SELECT
NP_000024.2:p.Ile657del
LRG_1017t1:c.1970_1972del
LRG_1017:g.23458_23460del
LRG_1017p1:p.Ile657del
NC_000023.10:g.153008779_153008781del
NM_000033.3:c.1970_1972del

Protein change:

I657del

Links:

dbSNP: rs2148399308

NCBI 1000 Genomes Browser:

rs2148399308

Molecular consequence:

NM_000033.4:c.1970_1972del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001880415	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Likely pathogenic (Feb 18, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 7825602, 24719134, 24480483, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001880415

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Likely pathogenic
(Feb 18, 2021)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA.

Am J Hum Genet. 1995 Jan;56(1):44-50.

PubMed [citation]

PMID:: 7825602
PMCID:: PMC1801307

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

Park HJ, Shin HY, Kang HC, Choi BO, Suh BC, Kim HJ, Choi YC, Lee PH, Kim SM.

Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1.

PubMed [citation]

PMID:: 24719134
PMCID:: PMC3990087

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001880415.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene.

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

Last Updated: May 7, 2024

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Relating variation to medicine