NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2022
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:: RCV002355132.2

Allele description [Variation Report for NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)]

NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)

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.632A>G (p.Tyr211Cys)

HGVS:

NC_000001.11:g.156134521A>G
NG_008692.2:g.56949A>G
NM_001257374.3:c.296A>G
NM_001282624.2:c.389A>G
NM_001282625.2:c.632A>G
NM_001282626.2:c.632A>G
NM_005572.4:c.632A>G
NM_170707.4:c.632A>GMANE SELECT
NM_170708.4:c.632A>G
NP_001244303.1:p.Tyr99Cys
NP_001269553.1:p.Tyr130Cys
NP_001269554.1:p.Tyr211Cys
NP_001269555.1:p.Tyr211Cys
NP_005563.1:p.Tyr211Cys
NP_733821.1:p.Tyr211Cys
NP_733822.1:p.Tyr211Cys
LRG_254t2:c.632A>G
LRG_254:g.56949A>G
NC_000001.10:g.156104312A>G
NM_170707.2:c.632A>G
NM_170707.3:c.632A>G

Protein change:

Y130C

Links:

dbSNP: rs987157491

NCBI 1000 Genomes Browser:

rs987157491

Molecular consequence:

NM_001257374.3:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002654586	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 10, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29386531, 32789579 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002654586

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 10, 2022)

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

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T, Nomura S, Fujita T, Morita H, Asano Y, Onoue K, Ito M, Imai Y, Suzuki A, Ko T, Satoh M, Fujita K, Naito AT, Furutani Y, Toko H, Harada M, Amiya E, Hatano M, Takimoto E, Shiga T, Nakanishi T, Sakata Y, et al.

Sci Rep. 2018 Jan 31;8(1):1998. doi: 10.1038/s41598-018-20114-9.

PubMed [citation]

PMID:: 29386531
PMCID:: PMC5792481

Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.

Köffer J, Scheiper-Welling S, Verhoff MA, Bajanowski T, Kauferstein S.

Int J Legal Med. 2021 Jan;135(1):207-212. doi: 10.1007/s00414-020-02394-x. Epub 2020 Aug 12.

PubMed [citation]

PMID:: 32789579
PMCID:: PMC7782403

Details of each submission

From Ambry Genetics, SCV002654586.2

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

Description

The p.Y211C variant (also known as c.632A>G), located in coding exon 3 of the LMNA gene, results from an A to G substitution at nucleotide position 632. The tyrosine at codon 211 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in a cardiomyopathy cohort and a sudden infant death cohort; however, clinical details were limited in both cases (Tobita T et al. Sci Rep, 2018 01;8:1998; Köffer J et al. Int J Legal Med, 2021 Jan;135:207-212). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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