NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Dec 21, 2021
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:: RCV000255705.25

Allele description [Variation Report for NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)]

NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)

Gene:

LMBRD1:LMBR1 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)

HGVS:

NC_000006.12:g.69701470del
NG_016012.2:g.170147del
NM_001363722.2:c.837del
NM_001367271.1:c.837del
NM_001367272.1:c.837del
NM_018368.4:c.1056delMANE SELECT
NP_001350651.1:p.Asn280fs
NP_001354200.1:p.Asn280fs
NP_001354201.1:p.Asn280fs
NP_060838.3:p.Asn353fs
LRG_1310t1:c.1056del
LRG_1310:g.170147del
LRG_1310p1:p.Asn353fs
NC_000006.11:g.70411362del
NG_016012.1:g.100688del
NM_018368.3:c.1056delG

Protein change:

N280fs

Links:

OMIM: 612625.0001; dbSNP: rs749272546

NCBI 1000 Genomes Browser:

rs749272546

Molecular consequence:

NM_001363722.2:c.837del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367271.1:c.837del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367272.1:c.837del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018368.4:c.1056del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000322299	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 21, 2021)	germline	clinical testing	Citation Link,
SCV000610635	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 30, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002062682	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Nov 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322299

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 21, 2021)

germline

clinical testing

Citation Link,

SCV000610635

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 30, 2017)

germline

clinical testing

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

SCV002062682

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Nov 1, 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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

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 GeneDx, SCV000322299.9

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24664876, 22065268, 19136951, 26997947, 23776111, 20127417, 21303734, 25533962, 31589614)

#	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

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610635.1

#	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	not provided	not provided	not provided	not provided		not provided	0.000647	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002062682.20

#	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	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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