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NM_001374828.1(ARID1B):c.344C>G (p.Ala115Gly) AND Intellectual disability

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2019
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:
RCV001249534.2

Allele description

NM_001374828.1(ARID1B):c.344C>G (p.Ala115Gly)

Genes:
ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
LOC115308161:uncharacterized LOC115308161 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_001374828.1(ARID1B):c.344C>G (p.Ala115Gly)
HGVS:
  • NC_000006.12:g.156778024C>G
  • NG_066624.1:g.6999C>G
  • NM_001346813.1:c.95C>G
  • NM_001371656.1:c.344C>G
  • NM_001374820.1:c.344C>G
  • NM_001374828.1:c.344C>GMANE SELECT
  • NM_017519.3:c.344C>G
  • NP_001358585.1:p.Ala115Gly
  • NP_001361749.1:p.Ala115Gly
  • NP_001361757.1:p.Ala115Gly
  • NP_059989.3:p.Ala115Gly
  • NC_000006.11:g.157099158C>G
  • NC_000006.11:g.157099158C>G
Protein change:
A115G
Links:
dbSNP: rs935320680
NCBI 1000 Genomes Browser:
rs935320680
Molecular consequence:
  • NM_001371656.1:c.344C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374820.1:c.344C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374828.1:c.344C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017519.3:c.344C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423524Diagnostic Laboratory, Strasbourg University Hospital
no assertion criteria provided
Uncertain significance
(Dec 1, 2019) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical testing

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV001423524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1bloodnot provided1not providednot providednot provided

Last Updated: Feb 28, 2024