NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 6, 2017
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:: RCV000729389.4

Allele description [Variation Report for NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)]

NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)

Gene:

LEMD3:LEM domain containing 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q14.3

Genomic location:

Preferred name:

NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)

HGVS:

NC_000012.12:g.65169836_65169859del
NG_016210.2:g.5266_5289del
NM_001167614.2:c.240_263del
NM_014319.4:c.240_263del24
NM_014319.5:c.240_263delMANE SELECT
NP_001161086.1:p.Pro81_Gly88del
NP_055134.2:p.Pro81_Gly88del
NC_000012.11:g.65563608_65563631del
NC_000012.11:g.65563616_65563639del
NG_016210.1:g.5266_5289del
NM_014319.4:c.240_263del
NM_014319.4:c.240_263delACCAGCGGCGGCGGCGGCCGCGGG

Links:

OMIM: 607844.0010; dbSNP: rs756800816

NCBI 1000 Genomes Browser:

rs756800816

Molecular consequence:

NM_001167614.2:c.240_263del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_014319.5:c.240_263del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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
SCV000857046	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Oct 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000857046

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Oct 6, 2017)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000857046.1

#	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

Last Updated: May 19, 2024

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