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NM_170707.4(LMNA):c.612G>A (p.Leu204=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 8, 2013
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:
RCV000253205.2

Allele description [Variation Report for NM_170707.4(LMNA):c.612G>A (p.Leu204=)]

NM_170707.4(LMNA):c.612G>A (p.Leu204=)

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.612G>A (p.Leu204=)
HGVS:
  • NC_000001.11:g.156134501G>A
  • NG_008692.2:g.56929G>A
  • NM_001257374.3:c.276G>A
  • NM_001282624.2:c.369G>A
  • NM_001282625.2:c.612G>A
  • NM_001282626.2:c.612G>A
  • NM_005572.4:c.612G>A
  • NM_170707.4:c.612G>AMANE SELECT
  • NM_170708.4:c.612G>A
  • NP_001244303.1:p.Leu92=
  • NP_001269553.1:p.Leu123=
  • NP_001269553.1:p.Leu123=
  • NP_001269554.1:p.Leu204=
  • NP_001269555.1:p.Leu204=
  • NP_005563.1:p.Leu204=
  • NP_005563.1:p.Leu204=
  • NP_733821.1:p.Leu204=
  • NP_733822.1:p.Leu204=
  • LRG_254t1:c.612G>A
  • LRG_254t2:c.612G>A
  • LRG_254:g.56929G>A
  • LRG_254p1:p.Leu204=
  • NC_000001.10:g.156104292G>A
  • NM_001282624.1:c.369G>A
  • NM_005572.3:c.612G>A
  • NM_170707.2:c.612G>A
  • NM_170707.3:c.612G>A
  • NP_005563.1:p.(=)
  • c.612G>A
  • p.Leu123Leu
Links:
dbSNP: rs12117552
NCBI 1000 Genomes Browser:
rs12117552
Molecular consequence:
  • NM_001257374.3:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282624.2:c.369G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282625.2:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282626.2:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005572.4:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170707.4:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170708.4:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000318270Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(Feb 8, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318270.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024