NM_170707.4(LMNA):c.937-22_937-10del AND Congenital muscular dystrophy due to LMNA mutation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 7, 2020
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:: RCV001255625.2

Allele description [Variation Report for NM_170707.4(LMNA):c.937-22_937-10del]

NM_170707.4(LMNA):c.937-22_937-10del

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.937-22_937-10del

HGVS:

NC_000001.11:g.156135879_156135891del
NG_008692.2:g.58307_58319del
NM_001257374.3:c.601-22_601-10del
NM_001282624.2:c.694-22_694-10del
NM_001282625.2:c.937-22_937-10del
NM_001282626.2:c.937-22_937-10del
NM_005572.4:c.937-22_937-10del
NM_170707.4:c.937-22_937-10delMANE SELECT
NM_170708.4:c.937-22_937-10del
LRG_254:g.58307_58319del
NC_000001.10:g.156105670_156105682del
NM_170707.3:c.937-22_937-10delAAACCCTCCCACC

Links:

dbSNP: rs886043199

NCBI 1000 Genomes Browser:

rs886043199

Molecular consequence:

NM_001257374.3:c.601-22_601-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282624.2:c.694-22_694-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282625.2:c.937-22_937-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282626.2:c.937-22_937-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_005572.4:c.937-22_937-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_170707.4:c.937-22_937-10del - intron variant - [Sequence Ontology: SO:0001627]
NM_170708.4:c.937-22_937-10del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Congenital muscular dystrophy due to LMNA mutation
Synonyms:: Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy
Identifiers:: MONDO: MONDO:0013178; MedGen: C2750785; Orphanet: 157973; OMIM: 613205

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432157	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 7, 2020)	de novo	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

SCV001432157

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 7, 2020)

de novo

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
Causasians	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001432157.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	1	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	de novo	yes	not provided	blood	not provided		1	not provided	1	not provided

Last Updated: Apr 1, 2023

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