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NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp) AND Ectopia lentis 2, isolated, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003340483.1

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp)]

NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp)

Gene:
ADAMTSL4:ADAMTS like 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.2
Genomic location:
Preferred name:
NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp)
HGVS:
  • NC_000001.11:g.150559794C>T
  • NG_012172.1:g.15373C>T
  • NM_001288607.2:c.2860C>T
  • NM_001288608.2:c.3046C>T
  • NM_001378596.1:c.2977C>T
  • NM_019032.4:c.2977C>T
  • NM_019032.6:c.2977C>TMANE SELECT
  • NP_001275536.1:p.Arg954Trp
  • NP_001275537.1:p.Arg1016Trp
  • NP_001365525.1:p.Arg993Trp
  • NP_061905.2:p.Arg993Trp
  • NC_000001.10:g.150532270C>T
  • NM_019032.5:c.2977C>T
  • NM_019032.6:c.2977C>T
Protein change:
R1016W
Molecular consequence:
  • NM_001288607.2:c.2860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288608.2:c.3046C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378596.1:c.2977C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019032.6:c.2977C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004049678Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV004049678.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024