NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 25, 2016
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:
RCV000413516.1

Allele description [Variation Report for NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)]

NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)

Gene:
ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)
HGVS:
  • NC_000006.12:g.157110561G>A
  • NG_066624.1:g.339536G>A
  • NM_001363725.2:c.82G>A
  • NM_001371656.1:c.2620G>A
  • NM_001374820.1:c.2620G>A
  • NM_001374828.1:c.2581G>AMANE SELECT
  • NM_017519.3:c.2581G>A
  • NM_020732.3:c.2371G>A
  • NP_001350654.1:p.Gly28Ser
  • NP_001358585.1:p.Gly874Ser
  • NP_001361749.1:p.Gly874Ser
  • NP_001361757.1:p.Gly861Ser
  • NP_059989.3:p.Gly861Ser
  • NP_065783.3:p.Gly791Ser
  • NC_000006.11:g.157431695G>A
Protein change:
G28S
Links:
dbSNP: rs1057518045
NCBI 1000 Genomes Browser:
rs1057518045
Molecular consequence:
  • NM_001363725.2:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371656.1:c.2620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374820.1:c.2620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374828.1:c.2581G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017519.3:c.2581G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020732.3:c.2371G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491415GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jan 25, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G791S variant in the ARID1B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G791S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position where amino acids with similar properties to Glycine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The G791S variant is a strong candidate for a pathogenic variant.

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

Last Updated: Apr 23, 2022