NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs) AND Nemaline myopathy 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 9, 2018
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:: RCV000674028.1

Allele description [Variation Report for NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)]

NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)

Genes:

NEB:nebulin [Gene - OMIM - HGNC]
RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)

HGVS:

NC_000002.12:g.151497029_151497033dup
NG_009382.2:g.242455_242459dup
NM_001164507.2:c.24301_24305dup
NM_001164508.2:c.24301_24305dupMANE SELECT
NM_001271208.2:c.24406_24410dup
NM_004543.5:c.18826-665_18826-661dup
NP_001157979.2:p.Tyr8103fs
NP_001157980.2:p.Tyr8103fs
NP_001258137.2:p.Tyr8138fs
LRG_202:g.242455_242459dup
NC_000002.11:g.152353543_152353547dup

Protein change:

Y8103fs

Links:

dbSNP: rs1553548771

NCBI 1000 Genomes Browser:

rs1553548771

Molecular consequence:

NM_001164507.2:c.24301_24305dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164508.2:c.24301_24305dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001271208.2:c.24406_24410dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004543.5:c.18826-665_18826-661dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000799298	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 9, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799298

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Apr 9, 2018)

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, SCV000799298.1

#	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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