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NM_170707.4(LMNA):c.438C>T (p.Ala146=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 16, 2016
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:
RCV000617451.11

Allele description [Variation Report for NM_170707.4(LMNA):c.438C>T (p.Ala146=)]

NM_170707.4(LMNA):c.438C>T (p.Ala146=)

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.438C>T (p.Ala146=)
Other names:
p.A146A:GCC>GCT
HGVS:
  • NC_000001.11:g.156130698C>T
  • NG_008692.2:g.53126C>T
  • NM_001257374.3:c.102C>T
  • NM_001282624.2:c.195C>T
  • NM_001282625.2:c.438C>T
  • NM_001282626.2:c.438C>T
  • NM_005572.4:c.438C>T
  • NM_170707.4:c.438C>TMANE SELECT
  • NM_170708.4:c.438C>T
  • NP_001244303.1:p.Ala34=
  • NP_001269553.1:p.Ala65=
  • NP_001269554.1:p.Ala146=
  • NP_001269555.1:p.Ala146=
  • NP_005563.1:p.Ala146=
  • NP_005563.1:p.Ala146=
  • NP_733821.1:p.Ala146=
  • NP_733822.1:p.Ala146=
  • LRG_254t1:c.438C>T
  • LRG_254t2:c.438C>T
  • LRG_254:g.53126C>T
  • LRG_254p1:p.Ala146=
  • NC_000001.10:g.156100489C>T
  • NM_001282626.1:c.438C>T
  • NM_005572.3:c.438C>T
  • NM_170707.2:c.438C>T
  • NM_170707.3:c.438C>T
  • c.438C>T
Links:
dbSNP: rs80356805
NCBI 1000 Genomes Browser:
rs80356805
Molecular consequence:
  • NM_001257374.3:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282624.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282625.2:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282626.2:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005572.4:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170707.4:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170708.4:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000735849Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Apr 16, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000735849.5

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024