NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) AND Nemaline myopathy 2

Clinical significance:Likely benign (Last evaluated: Dec 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001084411.2

Allele description [Variation Report for NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)]

NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)

Gene:
NEB:nebulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
HGVS:
  • NC_000002.12:g.151672462A>T
  • NG_009382.2:g.67026T>A
  • NM_001164507.2:c.4206T>A
  • NM_001164508.2:c.4206T>AMANE SELECT
  • NM_001271208.2:c.4206T>A
  • NM_004543.5:c.4206T>A
  • NP_001157979.2:p.Asn1402Lys
  • NP_001157980.2:p.Asn1402Lys
  • NP_001258137.2:p.Asn1402Lys
  • NP_004534.3:p.Asn1402Lys
  • LRG_202t1:c.4206T>A
  • LRG_202:g.67026T>A
  • NC_000002.11:g.152528976A>T
  • NM_001271208.1:c.4206T>A
Protein change:
N1402K
Links:
dbSNP: rs201169452
NCBI 1000 Genomes Browser:
rs201169452
Molecular consequence:
  • NM_001164507.2:c.4206T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164508.2:c.4206T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271208.2:c.4206T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004543.5:c.4206T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nemaline myopathy 2 (NEM2)
Synonyms:
Nemaline myopathy caused by mutation in the nebulin gene; Nemaline myopathy 2, autosomal recessive
Identifiers:
MONDO: MONDO:0009725; MedGen: C1850569; OMIM: 256030

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000640794Invitaecriteria provided, single submitter
Likely benign
(Dec 4, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000640794.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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