NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) AND Nemaline myopathy 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 1, 2024
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:: RCV001081238.8

Allele description [Variation Report for NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)]

NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)

Gene:

NEB:nebulin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q23.3

Genomic location:

Preferred name:

NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)

Other names:

p.Ala6429Asn

HGVS:

NC_000002.12:g.151560620_151560621delinsTT
NG_009382.2:g.178867_178868delinsAA
NM_001164507.2:c.19285_19286delinsAA
NM_001164508.2:c.19285_19286delinsAAMANE SELECT
NM_001271208.2:c.19285_19286delinsAA
NM_004543.5:c.14182_14183delinsAA
NP_001157979.2:p.Ala6429Asn
NP_001157980.2:p.Ala6429Asn
NP_001258137.2:p.Ala6429Asn
NP_004534.3:p.Ala4728Asn
LRG_202:g.178867_178868delinsAA
NC_000002.11:g.152417134_152417135delinsTT
NM_001271208.2:c.19285_19286delinsAA
NM_004543.4:c.14182_14183delGCinsAA

Protein change:

A4728N

Links:

dbSNP: rs796065338

NCBI 1000 Genomes Browser:

rs796065338

Molecular consequence:

NM_001164507.2:c.19285_19286delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001164508.2:c.19285_19286delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001271208.2:c.19285_19286delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_004543.5:c.14182_14183delinsAA - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000640639	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000640639

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Feb 1, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000640639.8

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

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

Last Updated: Sep 29, 2024

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