NM_170707.4(LMNA):c.673del (p.Arg225fs) AND Dilated cardiomyopathy 1A

Germline classification:: Likely pathogenic (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:: RCV003319247.1

Allele description [Variation Report for NM_170707.4(LMNA):c.673del (p.Arg225fs)]

NM_170707.4(LMNA):c.673del (p.Arg225fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.673del (p.Arg225fs)

HGVS:

NC_000001.11:g.156134838del
NG_008692.2:g.57266del
NM_001257374.3:c.337del
NM_001282624.2:c.430del
NM_001282625.2:c.673del
NM_001282626.2:c.673del
NM_001406983.1:c.673del
NM_001406984.1:c.673del
NM_001406985.1:c.673del
NM_001406986.1:c.430del
NM_001406987.1:c.430del
NM_001406988.1:c.376del
NM_001406989.1:c.337del
NM_001406990.1:c.115del
NM_001406991.1:c.673del
NM_001406992.1:c.673del
NM_001406993.1:c.115del
NM_001406994.1:c.9del
NM_001406995.1:c.115del
NM_001406996.1:c.115del
NM_001406997.1:c.115del
NM_001406998.1:c.337del
NM_001406999.1:c.9del
NM_001407000.1:c.9del
NM_001407001.1:c.9del
NM_001407002.1:c.115del
NM_001407003.1:c.115del
NM_005572.4:c.673del
NM_170707.4:c.673delMANE SELECT
NM_170708.4:c.673del
NP_001244303.1:p.Arg113fs
NP_001269553.1:p.Arg144fs
NP_001269554.1:p.Arg225fs
NP_001269555.1:p.Arg225fs
NP_001393912.1:p.Arg225fs
NP_001393913.1:p.Arg225fs
NP_001393914.1:p.Arg225fs
NP_001393915.1:p.Arg144fs
NP_001393916.1:p.Arg144fs
NP_001393917.1:p.Arg126fs
NP_001393918.1:p.Arg113fs
NP_001393919.1:p.Arg39fs
NP_001393920.1:p.Arg225fs
NP_001393921.1:p.Arg225fs
NP_001393922.1:p.Arg39fs
NP_001393923.1:p.Asp4fs
NP_001393924.1:p.Arg39fs
NP_001393925.1:p.Arg39fs
NP_001393926.1:p.Arg39fs
NP_001393927.1:p.Arg113fs
NP_001393928.1:p.Asp4fs
NP_001393929.1:p.Asp4fs
NP_001393930.1:p.Asp4fs
NP_001393931.1:p.Arg39fs
NP_001393932.1:p.Arg39fs
NP_005563.1:p.Arg225Aspfs
NP_005563.1:p.Arg225fs
NP_733821.1:p.Arg225Aspfs
NP_733821.1:p.Arg225fs
NP_733822.1:p.Arg225Aspfs
NP_733822.1:p.Arg225fs
LRG_254t1:c.673del
LRG_254t2:c.673del
LRG_254t3:c.673del
LRG_254:g.57266del
LRG_254p1:p.Arg225Aspfs
LRG_254p2:p.Arg225Aspfs
LRG_254p3:p.Arg225Aspfs
NC_000001.10:g.156104629del
NM_005572.3:c.673delC
NM_170707.2:c.673delC
NM_170707.3:c.673delC
NM_170708.2:c.673delC
NR_047544.1:n.1314delC
NR_047545.1:n.561delC

Protein change:

D4fs

Molecular consequence:

NM_001257374.3:c.337del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282624.2:c.430del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282625.2:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282626.2:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406983.1:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406984.1:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406985.1:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406986.1:c.430del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406987.1:c.430del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406988.1:c.376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406989.1:c.337del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406990.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406991.1:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406992.1:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406993.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406994.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406995.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406996.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406997.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406998.1:c.337del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406999.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407000.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407001.1:c.9del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407002.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407003.1:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005572.4:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170707.4:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170708.4:c.673del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003932359	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)	Likely pathogenic (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

SCV003932359

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)

Likely pathogenic
(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, SCV003932359.1

#	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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