NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs) AND Hereditary sensory and autonomic neuropathy type IIA

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000986922.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs)]

NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs)
HGVS:
  • NC_000002.12:g.166204438_166204441del
  • NG_012798.1:g.176549_176552del
  • NM_001365536.1:c.4424_4427delMANE SELECT
  • NM_002977.3:c.4391_4394del
  • NP_001352465.1:p.Thr1475fs
  • NP_002968.1:p.Thr1464fs
  • LRG_369t1:c.4391_4394del
  • LRG_369:g.176549_176552del
  • LRG_369p1:p.Thr1464fs
  • NC_000002.11:g.167060946_167060949delTCTG
  • NC_000002.11:g.167060948_167060951del
Protein change:
T1464fs
Links:
dbSNP: rs1574706911
NCBI 1000 Genomes Browser:
rs1574706911
Molecular consequence:
  • NM_001365536.1:c.4424_4427del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002977.3:c.4391_4394del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary sensory and autonomic neuropathy type IIA (HSAN2A)
Synonyms:
ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024309; MedGen: C2752089; Orphanet: 970; OMIM: 201300

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001136077Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136077.1

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

Last Updated: Apr 1, 2021

Support Center