NM_022458.4(LMBR1):c.66+229del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 14, 2018
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:: RCV001686996.1

Allele description [Variation Report for NM_022458.4(LMBR1):c.66+229del]

NM_022458.4(LMBR1):c.66+229del

Genes:

LOC129999726:ATAC-STARR-seq lymphoblastoid silent region 18852 [Gene]
LMBR1:limb development membrane protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q36.3

Genomic location:

Preferred name:

NM_022458.4(LMBR1):c.66+229del

HGVS:

NC_000007.14:g.156892705del
NG_009240.2:g.5510del
NM_001350953.2:c.66+229del
NM_001350954.2:c.-74+229del
NM_001350955.2:c.-567+229del
NM_001350956.2:c.-469+229del
NM_001350957.2:c.-402+229del
NM_001350958.2:c.-469+229del
NM_001363409.2:c.66+229del
NM_001363410.2:c.66+229del
NM_001363411.2:c.-402+229del
NM_001363412.2:c.76+229del
NM_001363413.2:c.-587+229del
NM_022458.4:c.66+229delMANE SELECT
NC_000007.13:g.156685399del

Links:

dbSNP: rs376668159

NCBI 1000 Genomes Browser:

rs376668159

Molecular consequence:

NM_001350953.2:c.66+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350954.2:c.-74+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350955.2:c.-567+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350956.2:c.-469+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350957.2:c.-402+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350958.2:c.-469+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363409.2:c.66+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363410.2:c.66+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363411.2:c.-402+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363412.2:c.76+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363413.2:c.-587+229del - intron variant - [Sequence Ontology: SO:0001627]
NM_022458.4:c.66+229del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001905047	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 14, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001905047

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 14, 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

Details of each submission

From GeneDx, SCV001905047.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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