NM_170707.4(LMNA):c.1381-5G>A AND Dilated cardiomyopathy 1A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001775087.8

Allele description [Variation Report for NM_170707.4(LMNA):c.1381-5G>A]

NM_170707.4(LMNA):c.1381-5G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.1381-5G>A

HGVS:

NC_000001.11:g.156136916G>A
NG_008692.2:g.59344G>A
NM_001257374.3:c.1045-5G>A
NM_001282624.2:c.1138-5G>A
NM_001282625.2:c.1381-5G>A
NM_001282626.2:c.1381-5G>A
NM_005572.4:c.1381-5G>A
NM_170707.4:c.1381-5G>AMANE SELECT
NM_170708.4:c.1381-5G>A
LRG_254t2:c.1381-5G>A
LRG_254:g.59344G>A
NC_000001.10:g.156106707G>A
NM_170707.2:c.1381-5G>A
NM_170707.3:c.1381-5G>A

Links:

dbSNP: rs730880133

NCBI 1000 Genomes Browser:

rs730880133

Molecular consequence:

NM_001257374.3:c.1045-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282624.2:c.1138-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282625.2:c.1381-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282626.2:c.1381-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_005572.4:c.1381-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170707.4:c.1381-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170708.4:c.1381-5G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV001593112	Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University	no assertion criteria provided	Uncertain significance (Apr 27, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001593112

Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University

no assertion criteria provided

Uncertain significance
(Apr 27, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University, SCV001593112.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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