NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) AND Ectopia lentis et pupillae

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 11, 2023
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:: RCV003147695.2

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)]

NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)

Genes:

ADAMTSL4:ADAMTS like 4 [Gene - OMIM - HGNC]
ADAMTSL4-AS2:ADAMTSL4 antisense RNA 2 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)

HGVS:

NC_000001.11:g.150554376del
NG_012172.1:g.9955del
NM_001288607.2:c.1143del
NM_001288608.2:c.1143del
NM_001378596.1:c.1143del
NM_019032.5:c.1143del
NM_019032.6:c.1143delMANE SELECT
NM_025008.5:c.1143del
NP_001275536.1:p.Glu382fs
NP_001275537.1:p.Glu382fs
NP_001365525.1:p.Glu382fs
NP_061905.2:p.Glu382fs
NP_079284.2:p.Glu382fs
NC_000001.10:g.150526852del
NM_019032.5:c.1143delT
NM_019032.6:c.1143del

Protein change:

E382fs

Links:

dbSNP: rs1461665171

NCBI 1000 Genomes Browser:

rs1461665171

Molecular consequence:

NM_001288607.2:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001288608.2:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378596.1:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_019032.6:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_025008.5:c.1143del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ectopia lentis et pupillae
Synonyms:: ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
Identifiers:: MONDO: MONDO:0009153; MedGen: C1644196; Orphanet: 1885; OMIM: 225200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003836067	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 9, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004049198	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 11, 2023)	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

SCV003836067

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 9, 2022)

unknown

clinical testing

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

SCV004049198

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 11, 2023)

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	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 Baylor Genetics, SCV003836067.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV004049198.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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