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NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) AND Intellectual disability, autosomal dominant 14

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001254354.2

Allele description [Variation Report for NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)]

NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)

Gene:
ARID1A:AT-rich interaction domain 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)
HGVS:
  • NC_000001.11:g.26696566G>A
  • NG_029965.1:g.5536G>A
  • NM_006015.6:c.163G>AMANE SELECT
  • NM_139135.4:c.163G>A
  • NP_006006.3:p.Gly55Arg
  • NP_624361.1:p.Gly55Arg
  • LRG_875t1:c.163G>A
  • LRG_875:g.5536G>A
  • NC_000001.10:g.27023057G>A
  • NM_006015.4:c.163G>A
  • p.Gly55Arg
Protein change:
G55R
Links:
dbSNP: rs1482791997
NCBI 1000 Genomes Browser:
rs1482791997
Molecular consequence:
  • NM_006015.6:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139135.4:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001427240Clinical Genomics Laboratory, Stanford Medicine
no assertion criteria provided
Uncertain significance
(Jun 19, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genomics Laboratory, Stanford Medicine, SCV001427240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

The p.Gly55Arg variant in the ARID1A gene was identified de novo in this individual, but has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The ARID1A gene has fewer missense variants in the general population than expected. A low rate of missense variation may suggest that this gene is intolerant to missense variation. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Gly55Arg variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PS2_Supporting;PM2; PP2]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024