NM_170707.4(LMNA):c.969GGA[1] (p.Glu324del) AND Dilated cardiomyopathy 1A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 2023
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:: RCV003319250.1

Allele description [Variation Report for NM_170707.4(LMNA):c.969GGA[1] (p.Glu324del)]

NM_170707.4(LMNA):c.969GGA[1] (p.Glu324del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.969GGA[1] (p.Glu324del)

HGVS:

NC_000001.11:g.156135933GGA[1]
NG_008692.2:g.58361GGA[1]
NM_001257374.3:c.633GGA[1]
NM_001282624.2:c.726GGA[1]
NM_001282625.2:c.969GGA[1]
NM_001282626.2:c.969GGA[1]
NM_001406983.1:c.969GGA[1]
NM_001406984.1:c.969GGA[1]
NM_001406985.1:c.969GGA[1]
NM_001406986.1:c.726GGA[1]
NM_001406987.1:c.726GGA[1]
NM_001406988.1:c.672GGA[1]
NM_001406989.1:c.633GGA[1]
NM_001406990.1:c.411GGA[1]
NM_001406991.1:c.969GGA[1]
NM_001406992.1:c.969GGA[1]
NM_001406993.1:c.411GGA[1]
NM_001406994.1:c.345GGA[1]
NM_001406995.1:c.411GGA[1]
NM_001406996.1:c.411GGA[1]
NM_001406997.1:c.411GGA[1]
NM_001406998.1:c.633GGA[1]
NM_001406999.1:c.345GGA[1]
NM_001407000.1:c.345GGA[1]
NM_001407001.1:c.345GGA[1]
NM_001407002.1:c.411GGA[1]
NM_001407003.1:c.411GGA[1]
NM_005572.4:c.969GGA[1]
NM_170707.4:c.969GGA[1]MANE SELECT
NM_170708.4:c.969GGA[1]
NP_001244303.1:p.Glu212del
NP_001269553.1:p.Glu243del
NP_001269554.1:p.Glu324del
NP_001269555.1:p.Glu324del
NP_001393912.1:p.Glu324del
NP_001393913.1:p.Glu324del
NP_001393914.1:p.Glu324del
NP_001393915.1:p.Glu243del
NP_001393916.1:p.Glu243del
NP_001393917.1:p.Glu225del
NP_001393918.1:p.Glu212del
NP_001393919.1:p.Glu138del
NP_001393920.1:p.Glu324del
NP_001393921.1:p.Glu324del
NP_001393922.1:p.Glu138del
NP_001393923.1:p.Glu116del
NP_001393924.1:p.Glu138del
NP_001393925.1:p.Glu138del
NP_001393926.1:p.Glu138del
NP_001393927.1:p.Glu212del
NP_001393928.1:p.Glu116del
NP_001393929.1:p.Glu116del
NP_001393930.1:p.Glu116del
NP_001393931.1:p.Glu138del
NP_001393932.1:p.Glu138del
NP_005563.1:p.Glu324del
NP_005563.1:p.Glu324del
NP_733821.1:p.Glu324del
NP_733821.1:p.Glu324del
NP_733822.1:p.Glu324del
NP_733822.1:p.Glu324del
LRG_254t1:c.969_971GGA[1]
LRG_254t2:c.969_971GGA[1]
LRG_254t3:c.969_971GGA[1]
LRG_254:g.58361GGA[1]
LRG_254p1:p.Glu324del
LRG_254p2:p.Glu324del
LRG_254p3:p.Glu324del
NC_000001.10:g.156105724GGA[1]
NM_005572.3:c.969_971GGA[1]
NM_170707.2:c.969_971GGA[1]
NM_170707.3:c.972_974delGGA
NM_170708.2:c.969_971GGA[1]
NR_047544.1:n.1610_1612GGA[1]
NR_047545.1:n.857_859GGA[1]

Protein change:

E116del

Molecular consequence:

NM_001257374.3:c.633GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282624.2:c.726GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282625.2:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282626.2:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406983.1:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406984.1:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406985.1:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406986.1:c.726GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406987.1:c.726GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406988.1:c.672GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406989.1:c.633GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406990.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406991.1:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406992.1:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406993.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406994.1:c.345GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406995.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406996.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406997.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406998.1:c.633GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406999.1:c.345GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407000.1:c.345GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407001.1:c.345GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407002.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407003.1:c.411GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005572.4:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170707.4:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170708.4:c.969GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Dilated cardiomyopathy 1A (CMD1A)
Synonyms:: CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932364	Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 1, 2023)	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

SCV003932364

Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 1, 2023)

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	yes	not provided	not provided	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 Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, SCV003932364.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

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