NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 29, 2018
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:: RCV001674771.2

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA]

NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA

Genes:

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

Variant type:

Insertion

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA

HGVS:

NC_000001.11:g.150556846_150556847insAA
NG_012172.1:g.12425_12426insAA
NM_001288607.2:c.1818+53_1818+54insAA
NM_001288608.2:c.1818+53_1818+54insAA
NM_001378596.1:c.1749+53_1749+54insAA
NM_019032.6:c.1749+53_1749+54insAAMANE SELECT
NM_025008.5:c.1749+53_1749+54insAA
NC_000001.10:g.150529322_150529323insAA

Links:

dbSNP: rs34379037

NCBI 1000 Genomes Browser:

rs34379037

Molecular consequence:

NM_001288607.2:c.1818+53_1818+54insAA - intron variant - [Sequence Ontology: SO:0001627]
NM_001288608.2:c.1818+53_1818+54insAA - intron variant - [Sequence Ontology: SO:0001627]
NM_001378596.1:c.1749+53_1749+54insAA - intron variant - [Sequence Ontology: SO:0001627]
NM_019032.6:c.1749+53_1749+54insAA - intron variant - [Sequence Ontology: SO:0001627]
NM_025008.5:c.1749+53_1749+54insAA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus ubiquitin specific petidase 45, mRNA (cDNA clone MGC:38578 IMAGE:53...
Mus musculus ubiquitin specific petidase 45, mRNA (cDNA clone MGC:38578 IMAGE:5354502), complete cds
gi|20380010|gb|BC027768.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001890610	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 29, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001890610

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 29, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001890610.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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