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NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2023
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:
RCV003250755.1

Allele description [Variation Report for NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)]

NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)

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.325C>T (p.Pro109Ser)
HGVS:
  • NC_000001.11:g.26696728C>T
  • NG_029965.1:g.5698C>T
  • NG_090123.1:g.1044C>T
  • NM_006015.6:c.325C>TMANE SELECT
  • NM_139135.4:c.325C>T
  • NP_006006.3:p.Pro109Ser
  • NP_006006.3:p.Pro109Ser
  • NP_624361.1:p.Pro109Ser
  • LRG_875t1:c.325C>T
  • LRG_875:g.5698C>T
  • LRG_875p1:p.Pro109Ser
  • NC_000001.10:g.27023219C>T
  • NM_006015.4:c.325C>T
Protein change:
P109S
Molecular consequence:
  • NM_006015.6:c.325C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139135.4:c.325C>T - 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
SCV003965748Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 15, 2023) 		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, SCV003965748.1

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

Description

The c.325C>T (p.P109S) alteration is located in exon 1 (coding exon 1) of the ARID1A gene. This alteration results from a C to T substitution at nucleotide position 325, causing the proline (P) at amino acid position 109 to be replaced by a serine (S). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 28, 2024