NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) AND Nemaline myopathy 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000671405.1

Allele description [Variation Report for NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)]

NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)

Gene:

NEB:nebulin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)

HGVS:

NC_000002.12:g.151677566_151677580del
NG_009382.2:g.61908_61922del
NM_001164507.2:c.3759_3773del
NM_001164508.2:c.3759_3773delMANE SELECT
NM_001271208.2:c.3759_3773del
NM_004543.5:c.3759_3773del
NP_001157979.2:p.Lys1254_Asp1258del
NP_001157980.2:p.Lys1254_Asp1258del
NP_001258137.2:p.Lys1254_Asp1258del
NP_004534.3:p.Lys1254_Asp1258del
LRG_202t1:c.3759_3773del15
LRG_202:g.61908_61922del
NC_000002.11:g.152534080_152534094del
NM_001271208.1:c.3759_3773del15

Links:

dbSNP: rs1553531184

NCBI 1000 Genomes Browser:

rs1553531184

Molecular consequence:

NM_001164507.2:c.3759_3773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001164508.2:c.3759_3773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001271208.2:c.3759_3773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004543.5:c.3759_3773del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796378	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 12, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796378

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Dec 12, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000796378.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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