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NM_001365536.1(SCN9A):c.4399-10_4399-7del AND Small fiber neuropathy

Germline classification:
Benign (1 submission)
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:
RCV000359605.5

Allele description [Variation Report for NM_001365536.1(SCN9A):c.4399-10_4399-7del]

NM_001365536.1(SCN9A):c.4399-10_4399-7del

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.4399-10_4399-7del
HGVS:
  • NC_000002.12:g.166204474CAAA[1]
  • NG_012798.1:g.176510GTTT[1]
  • NM_001365536.1:c.4399-10_4399-7delMANE SELECT
  • NM_002977.4:c.4366-10_4366-7del
  • LRG_369:g.176510GTTT[1]
  • NC_000002.11:g.167060981_167060984del
  • NC_000002.11:g.167060984CAAA[1]
  • NC_000002.12:g.166204478_166204481del
  • NM_002977.3:c.4366-10_4366-7delGTTT
Links:
dbSNP: rs77944059
NCBI 1000 Genomes Browser:
rs77944059
Molecular consequence:
  • NM_001365536.1:c.4399-10_4399-7del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002977.4:c.4366-10_4366-7del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Small fiber neuropathy (SFNP)
Identifiers:
MONDO: MONDO:0800207; MedGen: C3276706

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000418356Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000418356.2

#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