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NM_006096.4(NDRG1):c.891+5G>A AND Charcot-Marie-Tooth disease type 4D

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2020
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:
RCV001273463.1

Allele description [Variation Report for NM_006096.4(NDRG1):c.891+5G>A]

NM_006096.4(NDRG1):c.891+5G>A

Gene:
NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
NM_006096.4(NDRG1):c.891+5G>A
HGVS:
  • NC_000008.11:g.133244350C>T
  • NG_007943.1:g.57906G>A
  • NM_001135242.2:c.891+5G>A
  • NM_001258432.2:c.693+5G>A
  • NM_001258433.2:c.648+5G>A
  • NM_001374844.1:c.942+5G>A
  • NM_001374845.1:c.891+5G>A
  • NM_001374846.1:c.891+5G>A
  • NM_001374847.1:c.693+5G>A
  • NM_006096.4:c.891+5G>AMANE SELECT
  • LRG_258t1:c.891+5G>A
  • LRG_258:g.57906G>A
  • NC_000008.10:g.134256593C>T
  • NM_006096.3:c.891+5G>A
Links:
dbSNP: rs150968034
NCBI 1000 Genomes Browser:
rs150968034
Molecular consequence:
  • NM_001135242.2:c.891+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258432.2:c.693+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258433.2:c.648+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374844.1:c.942+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374845.1:c.891+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374846.1:c.891+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374847.1:c.693+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006096.4:c.891+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4D
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D; Neuropathy, hereditary motor and sensory, LOM type; Charcot-Marie-Tooth Neuropathy Type 4D
Identifiers:
MONDO: MONDO:0011085; MedGen: C1832334; Orphanet: 99950; OMIM: 601455

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001456514Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 24, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001456514.1

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

Last Updated: Dec 24, 2023