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NM_170707.4(LMNA):c.346C>T (p.Leu116=) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 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:
RCV002336594.2

Allele description [Variation Report for NM_170707.4(LMNA):c.346C>T (p.Leu116=)]

NM_170707.4(LMNA):c.346C>T (p.Leu116=)

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.346C>T (p.Leu116=)
HGVS:
  • NC_000001.11:g.156115264C>T
  • NG_008692.2:g.37692C>T
  • NM_001282625.2:c.346C>T
  • NM_001282626.2:c.346C>T
  • NM_005572.4:c.346C>T
  • NM_170707.4:c.346C>TMANE SELECT
  • NM_170708.4:c.346C>T
  • NP_001269554.1:p.Leu116=
  • NP_001269555.1:p.Leu116=
  • NP_005563.1:p.Leu116=
  • NP_733821.1:p.Leu116=
  • NP_733822.1:p.Leu116=
  • LRG_254t2:c.346C>T
  • LRG_254:g.37692C>T
  • NC_000001.10:g.156085055C>T
  • NM_170707.2:c.346C>T
  • NM_170707.3:c.346C>T
  • p.Leu116Leu
Links:
dbSNP: rs876657491
NCBI 1000 Genomes Browser:
rs876657491
Molecular consequence:
  • NM_001282625.2:c.346C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282626.2:c.346C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005572.4:c.346C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170707.4:c.346C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170708.4:c.346C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002618792Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 29, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002618792.2

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

Description

The c.346C>T variant (also known as p.L116L), located in coding exon 1 of the LMNA gene, results from a C to T substitution at nucleotide position 346. This nucleotide substitution does not change the leucine at codon 116. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024