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NM_003640.5(ELP1):c.466+5G>C AND Familial dysautonomia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 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:
RCV001276639.1

Allele description [Variation Report for NM_003640.5(ELP1):c.466+5G>C]

NM_003640.5(ELP1):c.466+5G>C

Gene:
ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.3
Genomic location:
Preferred name:
NM_003640.5(ELP1):c.466+5G>C
HGVS:
  • NC_000009.12:g.108926518C>G
  • NG_008788.1:g.12811G>C
  • NM_001318360.2:c.124+5G>C
  • NM_001330749.2:c.-394+5G>C
  • NM_003640.5:c.466+5G>CMANE SELECT
  • LRG_251t1:c.466+5G>C
  • LRG_251:g.12811G>C
  • NC_000009.11:g.111688798C>G
  • NM_003640.3:c.466+5G>C
Links:
dbSNP: rs745386940
NCBI 1000 Genomes Browser:
rs745386940
Molecular consequence:
  • NM_001318360.2:c.124+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330749.2:c.-394+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003640.5:c.466+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial dysautonomia (HSAN3)
Synonyms:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001463094Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001463094.1

#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: Sep 29, 2024