NM_001164508.2(NEB):c.22906-6_22906-2del AND Nemaline myopathy 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 19, 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:: RCV000667052.1

Allele description [Variation Report for NM_001164508.2(NEB):c.22906-6_22906-2del]

NM_001164508.2(NEB):c.22906-6_22906-2del

Genes:

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

Variant type:

Deletion

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_001164508.2(NEB):c.22906-6_22906-2del

HGVS:

NC_000002.12:g.151514933_151514937del
NG_009382.2:g.224554_224558del
NM_001164507.2:c.22906-6_22906-2del
NM_001164508.2:c.22906-6_22906-2delMANE SELECT
NM_001271208.2:c.23011-6_23011-2del
NM_004543.5:c.17803-6_17803-2del
LRG_202:g.224554_224558del
NC_000002.11:g.152371447_152371451del
NM_001271208.1:c.23011-6_23011-2del5

Links:

dbSNP: rs1014710501

NCBI 1000 Genomes Browser:

rs1014710501

Molecular consequence:

NM_001164507.2:c.22906-6_22906-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001164508.2:c.22906-6_22906-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001271208.2:c.23011-6_23011-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_004543.5:c.17803-6_17803-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000791444	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 19, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791444

Counsyl

criteria provided, single submitter

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

Uncertain significance
(May 19, 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, SCV000791444.1

#	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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