NM_170707.4(LMNA):c.1551G>A (p.Gln517=) AND Dilated cardiomyopathy 1A

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV000309672.7

Allele description [Variation Report for NM_170707.4(LMNA):c.1551G>A (p.Gln517=)]

NM_170707.4(LMNA):c.1551G>A (p.Gln517=)

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.1551G>A (p.Gln517=)

HGVS:

NC_000001.11:g.156137175G>A
NG_008692.2:g.59603G>A
NM_001257374.3:c.1215G>A
NM_001282624.2:c.1308G>A
NM_001282625.2:c.1551G>A
NM_001282626.2:c.1551G>A
NM_005572.4:c.1551G>A
NM_170707.4:c.1551G>AMANE SELECT
NM_170708.4:c.1551G>A
NP_001244303.1:p.Gln405=
NP_001269553.1:p.Gln436=
NP_001269554.1:p.Gln517=
NP_001269555.1:p.Gln517=
NP_005563.1:p.Gln517=
NP_005563.1:p.Gln517=
NP_733821.1:p.Gln517=
NP_733822.1:p.Gln517=
LRG_254t1:c.1551G>A
LRG_254t2:c.1551G>A
LRG_254:g.59603G>A
LRG_254p1:p.Gln517=
NC_000001.10:g.156106966G>A
NM_005572.3:c.1551G>A
NM_170707.2:c.1551G>A
NM_170707.3:c.1551G>A
p.Gln517Gln

Links:

dbSNP: rs41314035

NCBI 1000 Genomes Browser:

rs41314035

Molecular consequence:

NM_001257374.3:c.1215G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282624.2:c.1308G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282625.2:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282626.2:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005572.4:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170707.4:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170708.4:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000348907	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24001739, 17377071 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000348907

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

Al-Saaidi R, Rasmussen TB, Palmfeldt J, Nissen PH, Beqqali A, Hansen J, Pinto YM, Boesen T, Mogensen J, Bross P.

Exp Cell Res. 2013 Nov 15;319(19):3010-9. doi: 10.1016/j.yexcr.2013.08.024. Epub 2013 Aug 31.

PubMed [citation]

PMID:: 24001739

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, et al.

Neurology. 2007 Sep 18;69(12):1285-92. Epub 2007 Mar 21.

PubMed [citation]

PMID:: 17377071

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000348907.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Apr 20, 2024

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