NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) AND Dilated cardiomyopathy 1A

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 2, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000755678.4

Allele description [Variation Report for NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)]

NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)

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.976T>A (p.Ser326Thr)

Other names:

p.S326T:TCA>ACA

HGVS:

NC_000001.11:g.156135940T>A
NG_008692.2:g.58368T>A
NM_001257374.3:c.640T>A
NM_001282624.2:c.733T>A
NM_001282625.2:c.976T>A
NM_001282626.2:c.976T>A
NM_005572.4:c.976T>A
NM_170707.4:c.976T>AMANE SELECT
NM_170708.4:c.976T>A
NP_001244303.1:p.Ser214Thr
NP_001269553.1:p.Ser245Thr
NP_001269554.1:p.Ser326Thr
NP_001269555.1:p.Ser326Thr
NP_005563.1:p.Ser326Thr
NP_733821.1:p.Ser326Thr
NP_733822.1:p.Ser326Thr
LRG_254t2:c.976T>A
LRG_254:g.58368T>A
NC_000001.10:g.156105731T>A
NM_001282626.1:c.976T>A
NM_170707.2:c.976T>A
NM_170707.3:c.976T>A
c.976T>A

Protein change:

S214T

Links:

dbSNP: rs56851164

NCBI 1000 Genomes Browser:

rs56851164

Molecular consequence:

NM_001257374.3:c.640T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.733T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.976T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.976T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.976T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.976T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.976T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000883086	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 21, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004363611	Institute of Immunology and Genetics Kaiserslautern	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 2, 2024)	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

SCV000883086

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 21, 2018)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004363611

Institute of Immunology and Genetics Kaiserslautern

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 2, 2024)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000883086.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Immunology and Genetics Kaiserslautern, SCV004363611.1

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

Description

ACMG Criteria: PM2_P, PP5; Variant was found in heterozygous state

#	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: Apr 20, 2024

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