NM_170707.4(LMNA):c.3G>C (p.Met1Ile) AND not specified

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 16, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000678713.1

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

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

HGVS:

NC_000001.11:g.156114921G>C
NG_008692.2:g.37349G>C
NM_001282625.2:c.3G>C
NM_001282626.2:c.3G>C
NM_005572.4:c.3G>C
NM_170707.4:c.3G>CMANE SELECT
NM_170708.4:c.3G>C
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>C
LRG_254:g.37349G>C
NC_000001.10:g.156084712G>C
NM_170707.2:c.3G>C

Protein change:

M1I

Links:

dbSNP: rs794728598

NCBI 1000 Genomes Browser:

rs794728598

Molecular consequence:

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

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804880	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Likely pathogenic (Oct 16, 2015)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804880

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Likely pathogenic
(Oct 16, 2015)

germline

clinical testing

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 Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000804880.2

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

Last Updated: Sep 3, 2023

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