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NM_001004459.2(OR1S2):c.329C>T (p.Thr110Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 18, 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:
RCV004289223.1

Allele description [Variation Report for NM_001004459.2(OR1S2):c.329C>T (p.Thr110Ile)]

NM_001004459.2(OR1S2):c.329C>T (p.Thr110Ile)

Gene:
OR1S2:olfactory receptor family 1 subfamily S member 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.1
Genomic location:
Preferred name:
NM_001004459.2(OR1S2):c.329C>T (p.Thr110Ile)
HGVS:
  • NC_000011.10:g.58203814G>A
  • NG_053130.1:g.5368C>T
  • NM_001004459.2:c.329C>TMANE SELECT
  • NP_001004459.2:p.Thr110Ile
  • NC_000011.9:g.57971286G>A
  • NM_001004459.1:c.368C>T
Protein change:
T110I
Molecular consequence:
  • NM_001004459.2:c.329C>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
SCV003938651Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 18, 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, SCV003938651.2

#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: Nov 10, 2024