NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) AND not provided

Germline classification:: not provided (2 submissions)
Review status:: no classification provided

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:: RCV000057272.19

Allele description [Variation Report for NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)]

NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)

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.134A>G (p.Tyr45Cys)

HGVS:

NC_000001.11:g.156115052A>G
NG_008692.2:g.37480A>G
NM_001282625.2:c.134A>G
NM_001282626.2:c.134A>G
NM_005572.4:c.134A>G
NM_170707.4:c.134A>GMANE SELECT
NM_170708.4:c.134A>G
NP_001269554.1:p.Tyr45Cys
NP_001269555.1:p.Tyr45Cys
NP_005563.1:p.Tyr45Cys
NP_005563.1:p.Tyr45Cys
NP_733821.1:p.Tyr45Cys
NP_733822.1:p.Tyr45Cys
LRG_254t1:c.134A>G
LRG_254t2:c.134A>G
LRG_254:g.37480A>G
LRG_254p1:p.Tyr45Cys
NC_000001.10:g.156084843A>G
NM_005572.3:c.134A>G
NM_170707.2:c.134A>G
NM_170707.3:c.134A>G
P02545:p.Tyr45Cys

Protein change:

Y45C

Links:

UniProtKB: P02545#VAR_009971; dbSNP: rs58436778

NCBI 1000 Genomes Browser:

rs58436778

Molecular consequence:

NM_001282625.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000088385	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000088385

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, et al.

Ann Neurol. 2000 Aug;48(2):170-80.

PubMed [citation]

PMID:: 10939567

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.

Hum Mutat. 2011 Feb;32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25.

PubMed [citation]

PMID:: 20848652

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088385.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

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

From Eurofins Ntd Llc (ga), SCV000113212.8

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

#	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		2	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000113212	Eurofins Ntd Llc (ga)	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015)	Uncertain significance (Feb 9, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10939567, 20848652 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000113212

Eurofins Ntd Llc (ga)

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(EGL Classification Definitions 2015)

Uncertain significance
(Feb 9, 2016)

germline

clinical testing

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

Citation Link

Last Updated: Nov 10, 2024

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