NM_007055.4(POLR3A):c.601del (p.Ile201fs) AND Hypomyelinating leukodystrophy 7

Clinical significance:Pathogenic (Last evaluated: Nov 23, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000845270.4

Allele description [Variation Report for NM_007055.4(POLR3A):c.601del (p.Ile201fs)]

NM_007055.4(POLR3A):c.601del (p.Ile201fs)

Gene:
POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_007055.4(POLR3A):c.601del (p.Ile201fs)
HGVS:
  • NC_000010.11:g.78024593del
  • NG_029648.1:g.9948del
  • NM_007055.4:c.601delMANE SELECT
  • NP_008986.2:p.Ile201fs
  • NC_000010.10:g.79784351del
  • NM_007055.3:c.601del
  • NM_007055.3:c.601delA
Protein change:
I201fs
Links:
dbSNP: rs777280350
NCBI 1000 Genomes Browser:
rs777280350
Molecular consequence:
  • NM_007055.4:c.601del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hypomyelinating leukodystrophy 7 (HLD7)
Synonyms:
LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Dentoleukoencephalopathy; Dentoleukoencephalopathy, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011897; MedGen: C2676243; Orphanet: 137639; Orphanet: 447893; Orphanet: 447896; Orphanet: 77295; Orphanet: 88637; OMIM: 607694

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000987275MyeliNeuroGene Lab,McGill University Health Center Research Institutecriteria provided, single submitter
Pathogenicinheritedresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV001150224Institute of Human Genetics, Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(Nov 23, 2018)
maternalclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedno1not providednot providednot providednot providedresearch
not providedmaternalyes1not providednot provided1not providedclinical testing

Citations

PubMed

Clear cell sarcoma of tendons and aponeurosis--a case report.

Mohan SR, Tilak TB.

Indian J Pathol Microbiol. 1977 Oct;20(4):279-80. No abstract available.

PubMed [citation]
PMID:
614258

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 MyeliNeuroGene Lab,McGill University Health Center Research Institute, SCV000987275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided1not providednot providednot provided

From Institute of Human Genetics, Klinikum rechts der Isar, SCV001150224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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