NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) AND Nemaline myopathy 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 27, 2015
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:: RCV000410019.1

Allele description

NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)

Gene:

NEB:nebulin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)

HGVS:

NC_000002.12:g.151650339_151650341delinsGA
NG_009382.2:g.89147_89149delinsTC
NM_001164507.2:c.7266_7268delinsTC
NM_001164508.2:c.7266_7268delinsTCMANE SELECT
NM_001271208.2:c.7266_7268delinsTC
NM_004543.5:c.7266_7268delinsTC
NP_001157979.2:p.Gly2423fs
NP_001157980.2:p.Gly2423fs
NP_001258137.2:p.Gly2423fs
NP_004534.3:p.Gly2423fs
LRG_202:g.89147_89149delinsTC
NC_000002.11:g.152506853_152506855delinsGA
NM_004543.4:c.7266_7268delAGGinsTC

Protein change:

G2423fs

Links:

dbSNP: rs1057516348

NCBI 1000 Genomes Browser:

rs1057516348

Molecular consequence:

NM_001164507.2:c.7266_7268delinsTC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164508.2:c.7266_7268delinsTC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001271208.2:c.7266_7268delinsTC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004543.5:c.7266_7268delinsTC - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485506	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Dec 27, 2015)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485506

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Dec 27, 2015)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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, SCV000485506.1

#	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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