NM_019032.6(ADAMTSL4):c.1933C>T (p.Gln645Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 7, 2022
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:: RCV002867885.3

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.1933C>T (p.Gln645Ter)]

NM_019032.6(ADAMTSL4):c.1933C>T (p.Gln645Ter)

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.1933C>T (p.Gln645Ter)

HGVS:

NC_000001.11:g.150557221C>T
NG_012172.1:g.12800C>T
NM_001288607.2:c.1857-41C>T
NM_001288608.2:c.2002C>T
NM_001378596.1:c.1933C>T
NM_019032.6:c.1933C>TMANE SELECT
NM_025008.5:c.1933C>T
NP_001275537.1:p.Gln668Ter
NP_001365525.1:p.Gln645Ter
NP_061905.2:p.Gln645Ter
NP_079284.2:p.Gln645Ter
NC_000001.10:g.150529697C>T

Protein change:

Q645*

Molecular consequence:

NM_001288607.2:c.1857-41C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001288608.2:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001378596.1:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_019032.6:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_025008.5:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Model organism or animal sample from Rhyacichthys aspro
Model organism or animal sample from Rhyacichthys aspro

biosample
Coccocypselum hasslerianum (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003239333	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 7, 2022)	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

SCV003239333

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 7, 2022)

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, SCV003239333.2

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

Description

This sequence change creates a premature translational stop signal (p.Gln645*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. This variant is present in population databases (rs761928661, gnomAD 0.0009%).

#	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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