NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=) AND Cardiomyopathy

Clinical significance:Benign (Last evaluated: Mar 23, 2018)
Review status:2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000769733.4

Allele description [Variation Report for NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)]

NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)

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.1851C>T (p.Ala617_Ser618=)

HGVS:

NC_000001.11:g.156138640C>T
NG_008692.2:g.61068C>T
NM_001257374.3:c.1515C>T
NM_001282626.2:c.1818+33C>T
NM_001406983.1:c.1851C>T
NM_001406985.1:c.1851C>T
NM_001406986.1:c.1608C>T
NM_001406987.1:c.1608C>T
NM_001406988.1:c.1554C>T
NM_001406989.1:c.1515C>T
NM_001406990.1:c.1293C>T
NM_001406991.1:c.1851C>T
NM_001406993.1:c.1293C>T
NM_001406994.1:c.1227C>T
NM_001406995.1:c.1293C>T
NM_001406996.1:c.1293C>T
NM_001406997.1:c.1293C>T
NM_001406999.1:c.1227C>T
NM_001407000.1:c.1227C>T
NM_001407001.1:c.1227C>T
NM_170707.4:c.1851C>TMANE SELECT
NM_170708.4:c.1761C>T
NP_001244303.1:p.Ala505_Ser506=
NP_001393912.1:p.Ala617=
NP_001393914.1:p.Ala617=
NP_001393915.1:p.Ala536=
NP_001393916.1:p.Ala536=
NP_001393917.1:p.Ala518=
NP_001393918.1:p.Ala505=
NP_001393919.1:p.Ala431=
NP_001393920.1:p.Ala617=
NP_001393922.1:p.Ala431=
NP_001393923.1:p.Ala409=
NP_001393924.1:p.Ala431=
NP_001393925.1:p.Ala431=
NP_001393926.1:p.Ala431=
NP_001393928.1:p.Ala409=
NP_001393929.1:p.Ala409=
NP_001393930.1:p.Ala409=
NP_733821.1:p.Ala617=
NP_733821.1:p.Ala617_Ser618=
NP_733822.1:p.Ala587=
NP_733822.1:p.Ala587_Ser588=
LRG_254t1:c.*876C>T
LRG_254t2:c.1851C>T
LRG_254t3:c.1761C>T
LRG_254:g.61068C>T
LRG_254p2:p.Ala617=
LRG_254p3:p.Ala587=
NC_000001.10:g.156108431C>T
NM_005572.3:c.*876C>T
NM_170707.2:c.1851C>T
NM_170707.3:c.1851C>T
NM_170708.2:c.1761C>T
c.1851C>T
p.Ala617Ala

Links:

dbSNP: rs143189394

NCBI 1000 Genomes Browser:

rs143189394

Molecular consequence:

NM_001282626.2:c.1818+33C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001257374.3:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406983.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406985.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406986.1:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406987.1:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406988.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406989.1:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406990.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406991.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406993.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406994.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406995.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406996.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406997.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406999.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407000.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407001.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170707.4:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170708.4:c.1761C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000901155	CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository	criteria provided, single submitter ACMG Guidelines, 2015	Benign (Oct 9, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000913460	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter ACMG Guidelines, 2015	Benign (Mar 23, 2018)	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

SCV000901155

CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository

criteria provided, single submitter

ACMG Guidelines, 2015

Benign
(Oct 9, 2015)

germline

clinical testing

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

SCV000913460

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

ACMG Guidelines, 2015

Benign
(Mar 23, 2018)

germline

clinical testing

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

Summary from all submissions

Help

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901155.1

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

From Color Diagnostics, LLC DBA Color Health, SCV000913460.1

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

Last Updated: Jan 21, 2023

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