NM_170707.4(LMNA):c.498G>A (p.Arg166=) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 20, 2018
Review status:: criteria provided, conflicting classifications

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:: RCV000395106.7

Allele description [Variation Report for NM_170707.4(LMNA):c.498G>A (p.Arg166=)]

NM_170707.4(LMNA):c.498G>A (p.Arg166=)

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.498G>A (p.Arg166=)

HGVS:

NC_000001.11:g.156130758G>A
NG_008692.2:g.53186G>A
NM_001257374.3:c.162G>A
NM_001282624.2:c.255G>A
NM_001282625.2:c.498G>A
NM_001282626.2:c.498G>A
NM_005572.4:c.498G>A
NM_170707.4:c.498G>AMANE SELECT
NM_170708.4:c.498G>A
NP_001244303.1:p.Arg54=
NP_001269553.1:p.Arg85=
NP_001269554.1:p.Arg166=
NP_001269555.1:p.Arg166=
NP_005563.1:p.Arg166=
NP_733821.1:p.Arg166=
NP_733822.1:p.Arg166=
LRG_254t2:c.498G>A
LRG_254:g.53186G>A
NC_000001.10:g.156100549G>A
NM_170707.2:c.498G>A

Links:

dbSNP: rs886043189

NCBI 1000 Genomes Browser:

rs886043189

Molecular consequence:

NM_001257374.3:c.162G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282624.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282625.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282626.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005572.4:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170707.4:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_170708.4:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000338876	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jan 22, 2016)	germline	clinical testing	Citation Link,
SCV000984252	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Apr 20, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000338876

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jan 22, 2016)

germline

clinical testing

Citation Link,

SCV000984252

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Apr 20, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000338876.4

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

#	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		1	not provided	not provided	not provided

From GeneDx, SCV000984252.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024

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