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NM_001005480.2(OR2A2):c.445T>C (p.Ser149Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 2, 2024
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:
RCV004655363.1

Allele description [Variation Report for NM_001005480.2(OR2A2):c.445T>C (p.Ser149Pro)]

NM_001005480.2(OR2A2):c.445T>C (p.Ser149Pro)

Gene:
OR2A2:olfactory receptor family 2 subfamily A member 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q35
Genomic location:
Preferred name:
NM_001005480.2(OR2A2):c.445T>C (p.Ser149Pro)
HGVS:
  • NC_000007.14:g.144110027T>C
  • NM_001005480.2:c.445T>CMANE SELECT
  • NP_001005480.2:p.Ser149Pro
  • NC_000007.13:g.143807120T>C
Protein change:
S149P
Molecular consequence:
  • NM_001005480.2:c.445T>C - 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
SCV005144660Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 2, 2024) 		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, SCV005144660.1

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

Description

The c.445T>C (p.S149P) alteration is located in exon 1 (coding exon 1) of the OR2A2 gene. This alteration results from a T to C substitution at nucleotide position 445, causing the serine (S) at amino acid position 149 to be replaced by a proline (P). 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: Aug 11, 2024