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NM_170707.4(LMNA):c.471G>A (p.Thr157=) AND Dilated cardiomyopathy 1A

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 27, 2017
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:
RCV001099964.7

Allele description [Variation Report for NM_170707.4(LMNA):c.471G>A (p.Thr157=)]

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]

Condition(s)

Name:
Dilated cardiomyopathy 1A (CMD1A)
Synonyms:
CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001256457Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

Citation Link,

SCV003928190Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)		Likely benignunknownresearch

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH.

Hum Mutat. 2000 Dec;16(6):451-9. Review.

PubMed [citation]
PMID:
11102973

Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy.

Zhang X, Shao X, Zhang R, Zhu R, Feng R.

Clin Epigenetics. 2021 Jan 6;13(1):3. doi: 10.1186/s13148-020-00996-1.

PubMed [citation]
PMID:
33407844
PMCID:
PMC7788725
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001256457.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV003928190.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (5)

Description

Potent mutations in LMNA gene can lead to structural alteration in skeletal and cardiac muscle by altering the structure of Lamin A and Lamin C. It is associated with dilated cardiomyopathy and skeletal muscle dystrophies. However no sufficient evidence is found to ascertain the role of this particular variant rs150645079, yet.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024