NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 11, 2022
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:: RCV002363199.9

Allele description [Variation Report for NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)]

NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)

HGVS:

NC_000001.11:g.156134876_156134894delinsCC
NG_008692.2:g.57304_57322delinsCC
NM_001257374.3:c.375_393delinsCC
NM_001282624.2:c.468_486delinsCC
NM_001282625.2:c.711_729delinsCC
NM_001282626.2:c.711_729delinsCC
NM_005572.4:c.711_729delinsCC
NM_170707.4:c.711_729delinsCCMANE SELECT
NM_170708.4:c.711_729delinsCC
NP_001244303.1:p.Glu126fs
NP_001269553.1:p.Glu157fs
NP_001269554.1:p.Glu238fs
NP_001269555.1:p.Glu238fs
NP_005563.1:p.Glu238fs
NP_733821.1:p.Glu238fs
NP_733822.1:p.Glu238fs
LRG_254t2:c.711_729del19insCC
LRG_254:g.57304_57322delinsCC
NC_000001.10:g.156104667_156104685delinsCC
NM_170707.2:c.711_729del19insCC
NM_170707.3:c.711_729delinsCC

Protein change:

E126fs

Links:

dbSNP: rs1572359848

NCBI 1000 Genomes Browser:

rs1572359848

Molecular consequence:

NM_001257374.3:c.375_393delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282624.2:c.468_486delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282625.2:c.711_729delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282626.2:c.711_729delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005572.4:c.711_729delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170707.4:c.711_729delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170708.4:c.711_729delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002664242	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002664242

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 11, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002664242.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.711_729del19insCC pathogenic mutation, located in coding exon 4 of the LMNA gene, results from the deletion of 19 nucleotides and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.E238Rfs*10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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