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NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs) AND Nemaline myopathy 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 2, 2022
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:
RCV002310557.2

Allele description [Variation Report for NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)]

NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)

Gene:
NEB:nebulin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
HGVS:
  • NC_000002.12:g.151690806_151690807del
  • NG_009382.2:g.48681_48682del
  • NM_001164507.2:c.2230_2231del
  • NM_001164508.2:c.2230_2231delMANE SELECT
  • NM_001271208.2:c.2230_2231del
  • NM_004543.5:c.2230_2231del
  • NP_001157979.2:p.Pro744fs
  • NP_001157980.2:p.Pro744fs
  • NP_001258137.1:p.Pro744Argfs
  • NP_001258137.2:p.Pro744fs
  • NP_004534.2:p.Pro744Argfs
  • NP_004534.3:p.Pro744fs
  • LRG_202t1:c.2230_2231del
  • LRG_202:g.48681_48682del
  • LRG_202p1:p.Pro744Argfs
  • NC_000002.11:g.152547320_152547321del
  • NM_001271208.1:c.2230_2231delCC
  • NM_004543.3:c.2230_2231delCC
Protein change:
P744fs
Molecular consequence:
  • NM_001164507.2:c.2230_2231del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164508.2:c.2230_2231del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001271208.2:c.2230_2231del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004543.5:c.2230_2231del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603279Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Jan 2, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603279.2

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

Description

NM_001271208.1(NEB):c.2230_2231delCC(P744Rfs*2) is expected to be pathogenic in the context of NEB-related nemaline myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NEB, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022