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NM_001386096.1(OR2A25):c.925A>T (p.Thr309Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 9, 2022
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:
RCV004140607.1

Allele description [Variation Report for NM_001386096.1(OR2A25):c.925A>T (p.Thr309Ser)]

NM_001386096.1(OR2A25):c.925A>T (p.Thr309Ser)

Gene:
OR2A25:olfactory receptor family 2 subfamily A member 25 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q35
Genomic location:
Preferred name:
NM_001386096.1(OR2A25):c.925A>T (p.Thr309Ser)
HGVS:
  • NC_000007.14:g.144075144A>T
  • NM_001004488.2:c.925A>T
  • NM_001386096.1:c.925A>TMANE SELECT
  • NP_001004488.1:p.Thr309Ser
  • NP_001373025.1:p.Thr309Ser
  • NC_000007.13:g.143772237A>T
  • NM_001004488.1:c.925A>T
Protein change:
T309S
Molecular consequence:
  • NM_001004488.2:c.925A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386096.1:c.925A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003628067Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 9, 2022) 		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, SCV003628067.2

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

Description

The c.925A>T (p.T309S) alteration is located in exon 1 (coding exon 1) of the OR2A25 gene. This alteration results from a A to T substitution at nucleotide position 925, causing the threonine (T) at amino acid position 309 to be replaced by a serine (S). 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: Nov 10, 2024