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NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 22, 2021
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:
RCV002446880.2

Allele description [Variation Report for NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)]

NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)
Other names:
p.Met426Lys
HGVS:
  • NC_000002.12:g.166288474A>T
  • NG_012798.1:g.92514T>A
  • NM_001365536.1:c.1277T>AMANE SELECT
  • NM_002977.4:c.1277T>A
  • NP_001352465.1:p.Met426Lys
  • NP_002968.1:p.Met426Lys
  • NP_002968.1:p.Met426Lys
  • NP_002968.2:p.Met426Lys
  • LRG_369t1:c.1277T>A
  • LRG_369:g.92514T>A
  • LRG_369p1:p.Met426Lys
  • NC_000002.11:g.167144984A>T
  • NM_002977.2:c.1277T>A
  • NM_002977.3:c.1277T>A
Protein change:
M426K
Links:
dbSNP: rs200415928
NCBI 1000 Genomes Browser:
rs200415928
Molecular consequence:
  • NM_001365536.1:c.1277T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.4:c.1277T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002683158Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 22, 2021) 		germlineclinical testing

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 Ambry Genetics, SCV002683158.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.M426K variant (also known as c.1277T>A), located in coding exon 9 of the SCN9A gene, results from a T to A substitution at nucleotide position 1277. The methionine at codon 426 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of primary erythermalgia/small fiber neuropathy and paroxysmal extreme pain disorder (PEPD); however, its contribution to the development of congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathy type II (HSAN2D) is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024