NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) AND Hutchinson-Gilford syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 8, 2013
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:: RCV000192012.15

Allele description [Variation Report for NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)]

NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)

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.1619T>C (p.Met540Thr)

HGVS:

NC_000001.11:g.156137664T>C
NG_008692.2:g.60092T>C
NM_001257374.3:c.1283T>C
NM_001282624.2:c.1376T>C
NM_001282625.2:c.1619T>C
NM_001282626.2:c.1619T>C
NM_005572.4:c.1619T>C
NM_170707.4:c.1619T>CMANE SELECT
NM_170708.4:c.1608+432T>C
NP_001244303.1:p.Met428Thr
NP_001269553.1:p.Met459Thr
NP_001269554.1:p.Met540Thr
NP_001269555.1:p.Met540Thr
NP_005563.1:p.Met540Thr
NP_733821.1:p.Met540Thr
LRG_254t2:c.1619T>C
LRG_254:g.60092T>C
LRG_254p2:p.Met540Thr
NC_000001.10:g.156107455T>C
NM_170707.2:c.1619T>C
NM_170707.3:c.1619T>C

Protein change:

M428T

Links:

dbSNP: rs267607547

NCBI 1000 Genomes Browser:

rs267607547

Molecular consequence:

NM_170708.4:c.1608+432T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001257374.3:c.1283T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.1376T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hutchinson-Gilford syndrome (HGPS)
Synonyms:: Progerin-producing progeroid laminopathy
Identifiers:: MONDO: MONDO:0008310; MedGen: C0033300; Orphanet: 740; OMIM: 176670

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196615	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000595636	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 8, 2013)	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

SCV000196615

GeneReviews

no classification provided

not provided

germline

literature only

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

SCV000595636

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Feb 8, 2013)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only

Citations

PubMed

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

Bai S, Lozada A, Jones MC, Dietz HC, Dempsey M, Das S.

Case Rep Genet. 2014;2014:508231. doi: 10.1155/2014/508231. Epub 2014 Feb 3.

PubMed [citation]

PMID:: 24639906
PMCID:: PMC3930135

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From GeneReviews, SCV000196615.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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

From Genetic Services Laboratory, University of Chicago, SCV000595636.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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