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NM_001374828.1(ARID1B):c.3049G>A (p.Ala1017Thr) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 7, 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:
RCV002808786.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.3049G>A (p.Ala1017Thr)]

NM_001374828.1(ARID1B):c.3049G>A (p.Ala1017Thr)

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.3049G>A (p.Ala1017Thr)
HGVS:
  • NC_000006.12:g.157148911G>A
  • NG_066624.1:g.377886G>A
  • NM_001346813.1:c.2800G>A
  • NM_001363725.2:c.550G>A
  • NM_001371656.1:c.3088G>A
  • NM_001374820.1:c.3088G>A
  • NM_001374828.1:c.3049G>AMANE SELECT
  • NM_017519.3:c.3049G>A
  • NM_020732.3:c.2839G>A
  • NM_175863.2:c.2626G>A
  • NP_001333742.1:p.Ala934Thr
  • NP_001350654.1:p.Ala184Thr
  • NP_001358585.1:p.Ala1030Thr
  • NP_001361749.1:p.Ala1030Thr
  • NP_001361757.1:p.Ala1017Thr
  • NP_059989.3:p.Ala1017Thr
  • NP_065783.3:p.Ala947Thr
  • NP_787059.2:p.Ala876Thr
  • NC_000006.11:g.157470045G>A
Protein change:
A1017T
Molecular consequence:
  • NM_001346813.1:c.2800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363725.2:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371656.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374820.1:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374828.1:c.3049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017519.3:c.3049G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020732.3:c.2839G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175863.2:c.2626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003591218Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 7, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003591218.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2024