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NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002508949.1

Allele description [Variation Report for NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)]

NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)

Genes:
ASIC4-AS1:ASIC4 antisense RNA 1 [Gene - HGNC]
SPEG:striated muscle enriched protein kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)
HGVS:
  • NC_000002.12:g.219484434T>A
  • NG_051022.1:g.55220T>A
  • NM_005876.5:c.6971T>AMANE SELECT
  • NP_005867.3:p.Ile2324Asn
  • NC_000002.11:g.220349156T>A
  • NC_000002.11:g.220349156T>A
  • NM_005876.4:c.6971T>A
  • p.Ile2324Asn
Protein change:
I2324N
Links:
dbSNP: rs201170917
NCBI 1000 Genomes Browser:
rs201170917
Molecular consequence:
  • NM_005876.5:c.6971T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant centronuclear myopathy
Synonyms:
MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT; Myopathy, centronuclear, 1; Myopathy, centronuclear, 3
Identifiers:
MONDO: MONDO:0008048; MeSH: D020914; MedGen: C4551952; Orphanet: 169189; OMIM: 160150
Name:
Myopathy, centronuclear, 5 (CNM5)
Identifiers:
MONDO: MONDO:0014418; MedGen: C4014814; Orphanet: 169186; OMIM: 615959

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818421GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002818421.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 10-14-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Mar 16, 2024