NM_170707.4(LMNA):c.51C>T (p.Ser17=) AND not provided

Germline classification:: Benign (5 submissions)
Last evaluated:: Mar 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000057414.31

Allele description [Variation Report for NM_170707.4(LMNA):c.51C>T (p.Ser17=)]

NM_170707.4(LMNA):c.51C>T (p.Ser17=)

Genes:

LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [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.51C>T (p.Ser17=)

HGVS:

NC_000001.11:g.156114969C>T
NG_008692.2:g.37397C>T
NM_001282625.2:c.51C>T
NM_001282626.2:c.51C>T
NM_005572.4:c.51C>T
NM_170707.4:c.51C>TMANE SELECT
NM_170708.4:c.51C>T
NP_001269554.1:p.Ser17=
NP_001269554.1:p.Ser17=
NP_001269555.1:p.Ser17=
NP_005563.1:p.Ser17=
NP_005563.1:p.Ser17=
NP_733821.1:p.Ser17=
NP_733822.1:p.Ser17=
LRG_254t1:c.51C>T
LRG_254t2:c.51C>T
LRG_254t3:c.51C>T
LRG_254:g.37397C>T
LRG_254p1:p.Ser17=
NC_000001.10:g.156084760C>T
NM_001282625.1:c.51C>T
NM_005572.3:c.51C>T
NM_170707.2:c.51C>T
NM_170707.3:c.51C>T
NM_170708.2:c.51C>T
NP_005563.1:p.(=)
c.51C>T

Links:

dbSNP: rs11549668

NCBI 1000 Genomes Browser:

rs11549668

Molecular consequence:

NM_001282625.2:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282626.2:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005572.4:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170707.4:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170708.4:c.51C>T - 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
SCV000088528	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided
SCV000842666	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 28, 2017)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12920062, 19424285, 18795223, 19318026, 26467025
SCV001158851	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 21, 2023)	germline	clinical testing	Citation Link,
SCV002036936	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - 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
SCV002496937	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Mar 1, 2024)	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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	58	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

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M.

J Med Genet. 2003 Aug;40(8):560-7.

PubMed [citation]

PMID:: 12920062
PMCID:: PMC1735561

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P.

J Hum Genet. 2009 Jun;54(6):365-8. doi: 10.1038/jhg.2009.43. Epub 2009 May 8.

PubMed [citation]

PMID:: 19424285

See all PubMed Citations (5)

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088528.1

#	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 Athena Diagnostics Inc, SCV000842666.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158851.6

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002036936.1

#	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, SCV002496937.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	58	not provided	not provided	clinical testing	not provided

Description

LMNA: BP4, BP7, BS1, BS2

#	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		58	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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