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NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) AND Familial dysautonomia

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 14, 2016
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:
RCV000404116.7

Allele description [Variation Report for NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)]

NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)

Gene:
ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q31.3
Genomic location:
Preferred name:
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
HGVS:
  • NC_000009.12:g.108908324GAG[1]
  • NG_008788.1:g.31000CTC[1]
  • NM_001318360.2:c.1094CTC[1]
  • NM_001330749.2:c.389CTC[1]
  • NM_003640.5:c.1436CTC[1]MANE SELECT
  • NM_003640.5:c.1439_1441del
  • NP_001305289.1:p.Pro366del
  • NP_001317678.1:p.Pro131del
  • NP_003631.2:p.Pro480del
  • LRG_251t1:c.1439_1441del
  • LRG_251:g.31000CTC[1]
  • NC_000009.11:g.111670604GAG[1]
  • NM_003640.3:c.1439_1441delCTC
  • NM_003640.5:c.1439_1441delMANE SELECT
  • NM_003640.5:c.1439_1441delCTCMANE SELECT
Protein change:
P131del
Links:
dbSNP: rs746116617
NCBI 1000 Genomes Browser:
rs746116617
Molecular consequence:
  • NM_001318360.2:c.1094CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330749.2:c.389CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003640.5:c.1436CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000476579Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001458957Natera, 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 Illumina Laboratory Services, Illumina, SCV000476579.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
2not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001458957.1

#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: Nov 3, 2024