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NM_000033.4(ABCD1):c.1093_1103del (p.Val365fs) AND Abnormality of the nervous system

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 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:
RCV001814562.1

Allele description [Variation Report for NM_000033.4(ABCD1):c.1093_1103del (p.Val365fs)]

NM_000033.4(ABCD1):c.1093_1103del (p.Val365fs)

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.1093_1103del (p.Val365fs)
HGVS:
  • NC_000023.11:g.153736123_153736133del
  • NG_009022.2:g.16256_16266del
  • NM_000033.4:c.1093_1103delMANE SELECT
  • NP_000024.2:p.Val365fs
  • LRG_1017t1:c.1093_1103del
  • LRG_1017:g.16256_16266del
  • LRG_1017p1:p.Val365fs
  • NC_000023.10:g.153001577_153001587del
  • NM_000033.4:c.1093_1103delGTGAAGAAGGCMANE SELECT
Protein change:
V365fs
Links:
dbSNP: rs2148395370
NCBI 1000 Genomes Browser:
rs2148395370
Molecular consequence:
  • NM_000033.4:c.1093_1103del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Abnormality of the nervous system
Synonyms:
Congenital nervous system disorder
Identifiers:
MONDO: MONDO:0002320; MedGen: C0497552; Human Phenotype Ontology: HP:0000707

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755628Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755628.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023