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NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002495848.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)]

NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)

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.1601C>G (p.Thr534Ser)
HGVS:
  • NC_000001.11:g.156137225C>G
  • NG_008692.2:g.59653C>G
  • NM_001257374.3:c.1265C>G
  • NM_001282624.2:c.1358C>G
  • NM_001282625.2:c.1601C>G
  • NM_001282626.2:c.1601C>G
  • NM_005572.4:c.1601C>G
  • NM_170707.4:c.1601C>GMANE SELECT
  • NM_170708.4:c.1601C>G
  • NP_001244303.1:p.Thr422Ser
  • NP_001269553.1:p.Thr453Ser
  • NP_001269554.1:p.Thr534Ser
  • NP_001269555.1:p.Thr534Ser
  • NP_005563.1:p.Thr534Ser
  • NP_733821.1:p.Thr534Ser
  • NP_733822.1:p.Thr534Ser
  • LRG_254t2:c.1601C>G
  • LRG_254:g.59653C>G
  • NC_000001.10:g.156107016C>G
  • NM_170707.2:c.1601C>G
  • NM_170707.3:c.1601C>G
Protein change:
T422S
Links:
dbSNP: rs144740174
NCBI 1000 Genomes Browser:
rs144740174
Molecular consequence:
  • NM_001257374.3:c.1265C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.1358C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1601C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1601C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1601C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1601C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.1601C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Synonyms:
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; Malouf syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008915; MedGen: C0796031; Orphanet: 2229; OMIM: 212112
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
Name:
Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
Synonyms:
CMT 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011569; MedGen: C1854154; Orphanet: 98856; OMIM: 605588
Name:
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Synonyms:
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021569; MedGen: C0410190; Orphanet: 261; Orphanet: 264; OMIM: 181350
Name:
Heart-hand syndrome, Slovenian type
Identifiers:
MONDO: MONDO:0012417; MedGen: C1857829; Orphanet: 168796; OMIM: 610140
Name:
Hutchinson-Gilford syndrome (HGPS)
Synonyms:
Progerin-producing progeroid laminopathy
Identifiers:
MONDO: MONDO:0008310; MedGen: C0033300; Orphanet: 740; OMIM: 176670
Name:
Familial partial lipodystrophy, Dunnigan type
Synonyms:
Familial partial lipodystrophy 2; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007906; MedGen: C1720860; Orphanet: 2348; OMIM: 151660
Name:
Mandibuloacral dysplasia with type A lipodystrophy (MADA)
Synonyms:
CRANIOMANDIBULAR DERMATODYSOSTOSIS; Lipodystrophy, type A, associated with mandibuloacral dysplasia
Identifiers:
MONDO: MONDO:0009557; MedGen: C5399785; Orphanet: 2457; OMIM: 248370
Name:
Congenital muscular dystrophy due to LMNA mutation
Synonyms:
Congenital muscular dystrophy, LMNA-related; Lamin A-related Congenital Muscular Dystrophy
Identifiers:
MONDO: MONDO:0013178; MedGen: C2750785; Orphanet: 157973; OMIM: 613205
Name:
Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)
Identifiers:
MONDO: MONDO:0014676; MedGen: C2750035; Orphanet: 261; OMIM: 616516
Name:
Restrictive dermopathy 2 (RSDM2)
Synonyms:
RESTRICTIVE DERMOPATHY 2, LETHAL
Identifiers:
MONDO: MONDO:0030781; MedGen: C5676942; OMIM: 619793

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002791420Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 9, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002791420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024