NM_170707.4(LMNA):c.3G>A (p.Met1Ile) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 28, 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:: RCV000579197.3

Allele description [Variation Report for NM_170707.4(LMNA):c.3G>A (p.Met1Ile)]

NM_170707.4(LMNA):c.3G>A (p.Met1Ile)

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.3G>A (p.Met1Ile)

HGVS:

NC_000001.11:g.156114921G>A
NG_008692.2:g.37349G>A
NM_001282625.2:c.3G>A
NM_001282626.2:c.3G>A
NM_005572.4:c.3G>A
NM_170707.4:c.3G>AMANE SELECT
NM_170708.4:c.3G>A
NP_001269554.1:p.Met1Ile
NP_001269555.1:p.Met1Ile
NP_005563.1:p.Met1Ile
NP_733821.1:p.Met1Ile
NP_733822.1:p.Met1Ile
LRG_254t2:c.3G>A
LRG_254:g.37349G>A
NC_000001.10:g.156084712G>A
NM_170707.2:c.3G>A
NM_170707.3:c.3G>A
p.M1I

Protein change:

M1I

Links:

dbSNP: rs794728598

NCBI 1000 Genomes Browser:

rs794728598

Molecular consequence:

NM_001282625.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001282626.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_005572.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_170707.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_170708.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001282625.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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YibE/F family protein [Ligilactobacillus agilis]
YibE/F family protein [Ligilactobacillus agilis]
gi|2801115344|ref|WP_373880384.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680546	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 28, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680546

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 28, 2021)

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

Details of each submission

From GeneDx, SCV000680546.4

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Alters the initiator methionine codon, and the resultant protein would be described as "p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met; Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 488705; ClinVar)

#	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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