NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) AND Intellectual disability, autosomal dominant 14

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 5, 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:: RCV001253645.1

Allele description [Variation Report for NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)]

NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)

Gene:

ARID1A:AT-rich interaction domain 1A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)

HGVS:

NC_000001.11:g.26696664_26696678del
NG_029965.1:g.5634_5648del
NM_006015.6:c.261_275delMANE SELECT
NM_139135.4:c.261_275del
NP_006006.3:p.Ala88_Gly92del
NP_624361.1:p.Ala88_Gly92del
LRG_875t1:c.261_275del
LRG_875:g.5634_5648del
NC_000001.10:g.27023155_27023169del
NM_006015.4:c.261_275del

Links:

dbSNP: rs2080257947

NCBI 1000 Genomes Browser:

rs2080257947

Molecular consequence:

NM_006015.6:c.261_275del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_139135.4:c.261_275del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Name:: Intellectual disability, autosomal dominant 14 (CSS2)
Synonyms:: COFFIN-SIRIS SYNDROME 2
Identifiers:: MONDO: MONDO:0013819; MedGen: C3553247; Orphanet: 1465; OMIM: 614607

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429479	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 5, 2018)	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

SCV001429479

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 5, 2018)

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	yes	1	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001429479.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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