NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 2, 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:: RCV000611547.4

Allele description [Variation Report for NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)]

NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)

Genes:

LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [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.448A>G (p.Thr150Ala)

HGVS:

NC_000001.11:g.156130708A>G
NG_008692.2:g.53136A>G
NM_001257374.3:c.112A>G
NM_001282624.2:c.205A>G
NM_001282625.2:c.448A>G
NM_001282626.2:c.448A>G
NM_005572.4:c.448A>G
NM_170707.4:c.448A>GMANE SELECT
NM_170708.4:c.448A>G
NP_001244303.1:p.Thr38Ala
NP_001269553.1:p.Thr69Ala
NP_001269554.1:p.Thr150Ala
NP_001269554.1:p.Thr150Ala
NP_001269555.1:p.Thr150Ala
NP_005563.1:p.Thr150Ala
NP_733821.1:p.Thr150Ala
NP_733822.1:p.Thr150Ala
LRG_254t2:c.448A>G
LRG_254:g.53136A>G
NC_000001.10:g.156100499A>G
NM_001282625.1:c.448A>G
NM_170707.2:c.448A>G
NM_170707.3:c.448A>G

Protein change:

T150A

Links:

dbSNP: rs58917027

NCBI 1000 Genomes Browser:

rs58917027

Molecular consequence:

NM_001257374.3:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.205A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000731631	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (May 2, 2017)	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

SCV000731631

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(May 2, 2017)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000731631.1

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

Description

The p.Thr150Ala variant in LMNA has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Thr150Ala variant may not impact the protein, though this information is not predictive enough to rule out patho genicity. This variant has been reported in ClinVar (Variation ID: 222692). Of n ote, a change that the same codon (p.Thr150Pro) has been classified as likely pa thogenic (LMM data), suggesting that changes at this position may not be tolerat ed. In summary, the clinical significance of the p.Thr150Ala variant is uncertai n.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine