NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) AND Ectopia lentis 2, isolated, autosomal recessive

Germline classification:: Pathogenic/Likely pathogenic (3 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:: RCV000032757.4

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)]

NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)

HGVS:

NC_000001.11:g.150557296C>T
NG_012172.1:g.12875C>T
NM_001288607.2:c.1891C>T
NM_001288608.2:c.2077C>T
NM_001378596.1:c.2008C>T
NM_019032.6:c.2008C>TMANE SELECT
NM_025008.5:c.2008C>T
NP_001275536.1:p.Arg631Ter
NP_001275537.1:p.Arg693Ter
NP_001365525.1:p.Arg670Ter
NP_061905.2:p.Arg670Ter
NP_079284.2:p.Arg670Ter
NC_000001.10:g.150529772C>T
NM_019032.5:c.2008C>T

Protein change:

R631*; ARG670TER

Links:

OMIM: 610113.0005; dbSNP: rs368482584

NCBI 1000 Genomes Browser:

rs368482584

Molecular consequence:

NM_001288607.2:c.1891C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001288608.2:c.2077C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001378596.1:c.2008C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_019032.6:c.2008C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_025008.5:c.2008C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ectopia lentis 2, isolated, autosomal recessive (ECTOL2)
Synonyms:: Ectopia lentis, isolated autosomal recessive
Identifiers:: MONDO: MONDO:0009152; MedGen: C3541474; Orphanet: 1885; OMIM: 225100

Recent activity

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AP-1 complex subunit gamma-like 2 isoform 2 [Homo sapiens]
AP-1 complex subunit gamma-like 2 isoform 2 [Homo sapiens]
gi|1233267553|ref|NP_001341604.1|

Protein
Schilder disease
Schilder disease

MedGen
C0007795[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056521	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002517519	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link,
SCV004049577	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

SCV000056521

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2010)

germline

literature only

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

SCV002517519

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link,

SCV004049577

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G.

Hum Mutat. 2010 Aug;31(8):E1622-31. doi: 10.1002/humu.21305.

PubMed [citation]

PMID:: 20564469

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 OMIM, SCV000056521.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 sibs from a Caucasian British family with autosomal recessive isolated ectopia lentis (ECTOL2; 242100), Aragon-Martin et al. (2010) identified homozygosity for a 2008C-T transition in exon 12 of the ADAMTSL4 gene, resulting in an arg670-to-ter (R670X; 610113.0004) substitution.

#	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	not provided	not provided	not provided

From Mendelics, SCV002517519.1

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

From Genome-Nilou Lab, SCV004049577.1

#	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: Sep 29, 2024

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