NM_170707.4(LMNA):c.471G>A (p.Thr157=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Sep 1, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000727266.18

Allele description

NM_170707.4(LMNA):c.471G>A (p.Thr157=)

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.471G>A (p.Thr157=)

Other names:

p.T157T:ACG>ACA

HGVS:

NC_000001.11:g.156130731G>A
NG_008692.2:g.53159G>A
NM_001257374.3:c.135G>A
NM_001282624.2:c.228G>A
NM_001282625.2:c.471G>A
NM_001282626.2:c.471G>A
NM_005572.4:c.471G>A
NM_170707.4:c.471G>AMANE SELECT
NM_170708.4:c.471G>A
NP_001244303.1:p.Thr45=
NP_001269553.1:p.Thr76=
NP_001269554.1:p.Thr157=
NP_001269555.1:p.Thr157=
NP_005563.1:p.Thr157=
NP_005563.1:p.Thr157=
NP_733821.1:p.Thr157=
NP_733822.1:p.Thr157=
LRG_254t1:c.471G>A
LRG_254t2:c.471G>A
LRG_254:g.53159G>A
LRG_254p1:p.Thr157=
NC_000001.10:g.156100522G>A
NM_001282626.1:c.471G>A
NM_005572.3:c.471G>A
NM_170707.2:c.471G>A
NM_170707.3:c.471G>A

Links:

dbSNP: rs150645079

NCBI 1000 Genomes Browser:

rs150645079

Molecular consequence:

NM_001257374.3:c.135G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282624.2:c.228G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282625.2:c.471G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282626.2:c.471G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005572.4:c.471G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170707.4:c.471G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170708.4:c.471G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000707091	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jun 8, 2018)	germline	clinical testing	Citation Link,
SCV001144441	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 29, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17377071, 23853504, 22326558, 26467025
SCV001926930	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001955486	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV004124985	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Sep 1, 2023)	germline	clinical testing	Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, et al.

Neurology. 2007 Sep 18;69(12):1285-92. Epub 2007 Mar 21.

PubMed [citation]

PMID:: 17377071

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Carboni N, Politano L, Floris M, Mateddu A, Solla E, Olla S, Maggi L, Antonietta Maioli M, Piras R, Cocco E, Marrosu G, Giovanna Marrosu M.

Acta Myol. 2013 May;32(1):7-17. Review.

PubMed [citation]

PMID:: 23853504
PMCID:: PMC3665370

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000707091.2

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

#	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

From Athena Diagnostics, SCV001144441.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926930.1

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

#	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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001955486.1

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

#	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 CeGaT Center for Human Genetics Tuebingen, SCV004124985.4

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

Description

LMNA: BP4, BP7

#	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		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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