NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) AND not provided

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Aug 24, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000057497.9

Allele description [Variation Report for NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)]

NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)

Genes:

LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [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.99G>C (p.Glu33Asp)

HGVS:

NC_000001.11:g.156115017G>C
NG_008692.2:g.37445G>C
NM_001282625.2:c.99G>C
NM_001282626.2:c.99G>C
NM_005572.4:c.99G>C
NM_170707.4:c.99G>CMANE SELECT
NM_170708.4:c.99G>C
NP_001269554.1:p.Glu33Asp
NP_001269555.1:p.Glu33Asp
NP_005563.1:p.Glu33Asp
NP_733821.1:p.Glu33Asp
NP_733822.1:p.Glu33Asp
LRG_254t2:c.99G>C
LRG_254:g.37445G>C
NC_000001.10:g.156084808G>C
NM_170707.2:c.99G>C
NM_170707.3:c.99G>C
P02545:p.Glu33Asp

Protein change:

E33D

Links:

UniProtKB: P02545#VAR_039750; dbSNP: rs57966821

NCBI 1000 Genomes Browser:

rs57966821

Molecular consequence:

NM_001282625.2:c.99G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.99G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.99G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.99G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.99G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000088611	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided
SCV000701609	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Jan 19, 2018)	germline	clinical testing	Citation Link,
SCV002022701	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 24, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000088611

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

SCV000701609

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Jan 19, 2018)

germline

clinical testing

Citation Link,

SCV002022701

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 24, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088611.1

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

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

From Eurofins Ntd Llc (ga), SCV000701609.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002022701.3

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

#	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: Mar 16, 2024

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