U.S. flag

An official website of the United States government

NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 21, 2015
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:
RCV000623647.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter)]

NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter)

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.4362T>A (p.Tyr1454Ter)
HGVS:
  • NC_000006.12:g.157196295T>A
  • NG_066624.1:g.425270T>A
  • NM_001363725.2:c.1863T>A
  • NM_001371656.1:c.4242T>A
  • NM_001374820.1:c.4242T>A
  • NM_001374828.1:c.4362T>AMANE SELECT
  • NM_017519.3:c.4203T>A
  • NM_020732.3:c.3993T>A
  • NP_001350654.1:p.Tyr621Ter
  • NP_001358585.1:p.Tyr1414Ter
  • NP_001361749.1:p.Tyr1414Ter
  • NP_001361757.1:p.Tyr1454Ter
  • NP_059989.3:p.Tyr1401Ter
  • NP_065783.3:p.Tyr1331Ter
  • NC_000006.11:g.157517429T>A
Protein change:
Y1331*
Links:
dbSNP: rs1554234424
NCBI 1000 Genomes Browser:
rs1554234424
Molecular consequence:
  • NM_001363725.2:c.1863T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371656.1:c.4242T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374820.1:c.4242T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374828.1:c.4362T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017519.3:c.4203T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020732.3:c.3993T>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741141Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Oct 21, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741141.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024