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NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) AND Intellectual disability, autosomal dominant 14

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 3, 2021
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:
RCV002266758.1

Allele description [Variation Report for NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)]

NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)

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.242G>A (p.Gly81Glu)
HGVS:
  • NC_000001.11:g.26696645G>A
  • NG_029965.1:g.5615G>A
  • NM_006015.6:c.242G>AMANE SELECT
  • NM_139135.4:c.242G>A
  • NP_006006.3:p.Gly81Glu
  • NP_624361.1:p.Gly81Glu
  • LRG_875:g.5615G>A
  • NC_000001.10:g.27023136G>A
Protein change:
G81E
Links:
dbSNP: rs1285265984
NCBI 1000 Genomes Browser:
rs1285265984
Molecular consequence:
  • NM_006015.6:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139135.4:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002548851New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 3, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548851.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023