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NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs) AND Ectopia lentis 2, isolated, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000032755.3

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs)]

NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs)

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.826_836del (p.Arg276fs)
HGVS:
  • NC_000001.11:g.150553817_150553827del
  • NG_012172.1:g.9396_9406del
  • NM_001288607.2:c.826_836del
  • NM_001288608.2:c.826_836del
  • NM_001378596.1:c.826_836del
  • NM_019032.6:c.826_836delMANE SELECT
  • NM_025008.5:c.826_836del
  • NP_001275536.1:p.Arg276fs
  • NP_001275537.1:p.Arg276fs
  • NP_001365525.1:p.Arg276fs
  • NP_061905.2:p.Arg276fs
  • NP_061905.2:p.Arg276fs
  • NP_079284.2:p.Arg276fs
  • NC_000001.10:g.150526292_150526302del
  • NC_000001.10:g.150526293_150526303del
  • NM_019032.5:c.826_836del
Protein change:
R276fs
Links:
OMIM: 610113.0004; dbSNP: rs794726688
NCBI 1000 Genomes Browser:
rs794726688
Molecular consequence:
  • NM_001288607.2:c.826_836del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001288608.2:c.826_836del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378596.1:c.826_836del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_019032.6:c.826_836del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025008.5:c.826_836del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056519OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

Details of each submission

From OMIM, SCV000056519.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 11-bp deletion in the ADAMTSL4 gene (826_836del11) that was found in compound heterozygous state in patients with isolated ectopia lentis (ECTOL2; 252100) and in a patient with ectopia lentis et pupillae (225200) by Aragon-Martin et al. (2010), see 610113.0003.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024