NM_152641.4(ARID2):c.3600_3601insG (p.Ile1201fs) AND Coffin-Siris syndrome 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 26, 2024
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:: RCV003990204.2

Allele description [Variation Report for NM_152641.4(ARID2):c.3600_3601insG (p.Ile1201fs)]

NM_152641.4(ARID2):c.3600_3601insG (p.Ile1201fs)

Gene:

ARID2:AT-rich interaction domain 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

12q12

Genomic location:

Preferred name:

NM_152641.4(ARID2):c.3600_3601insG (p.Ile1201fs)

HGVS:

NC_000012.12:g.45851723_45851724insG
NG_052800.1:g.127059_127060insG
NM_001347839.2:c.3600_3601insG
NM_152641.4:c.3600_3601insGMANE SELECT
NP_001334768.1:p.Ile1201fs
NP_689854.2:p.Ile1201fs
NC_000012.11:g.46245506_46245507insG

Protein change:

I1201fs

Molecular consequence:

NM_001347839.2:c.3600_3601insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152641.4:c.3600_3601insG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Coffin-Siris syndrome 6
Identifiers:: MONDO: MONDO:0033492; MedGen: C4540499; OMIM: 617808

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004806605	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 26, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004806605

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 26, 2024)

germline

clinical testing

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

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

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806605.1

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

#	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: Aug 4, 2024

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