NM_019032.6(ADAMTSL4):c.816_817del (p.Gly273fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 7, 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:: RCV003563673.2

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.816_817del (p.Gly273fs)]

NM_019032.6(ADAMTSL4):c.816_817del (p.Gly273fs)

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.816_817del (p.Gly273fs)

HGVS:

NC_000001.11:g.150553807_150553808del
NG_012172.1:g.9386_9387del
NM_001288607.2:c.816_817del
NM_001288608.2:c.816_817del
NM_001378596.1:c.816_817del
NM_019032.6:c.816_817delMANE SELECT
NM_025008.5:c.816_817del
NP_001275536.1:p.Gly273fs
NP_001275537.1:p.Gly273fs
NP_001365525.1:p.Gly273fs
NP_061905.2:p.Gly273fs
NP_079284.2:p.Gly273fs
NC_000001.10:g.150526282_150526283del
NC_000001.10:g.150526283_150526284del

Protein change:

G273fs

Molecular consequence:

NM_001288607.2:c.816_817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001288608.2:c.816_817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378596.1:c.816_817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_019032.6:c.816_817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_025008.5:c.816_817del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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1200[uid] AND (alive[prop]) (1)
Gene
TPP1 tripeptidyl peptidase 1 [Homo sapiens]
TPP1 tripeptidyl peptidase 1 [Homo sapiens]
Gene ID:1200

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004312610	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 7, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20564469, 28642162, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004312610

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 7, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A.

Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19.

PubMed [citation]

PMID:: 28642162

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004312610.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant is present in population databases (rs751125855, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gly273Leufs*27) in the ADAMTSL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTSL4 are known to be pathogenic (PMID: 20564469, 28642162). This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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

Last Updated: Sep 29, 2024

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