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NM_001005187.1(OR6T1):c.455G>T (p.Gly152Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 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:
RCV004647889.1

Allele description [Variation Report for NM_001005187.1(OR6T1):c.455G>T (p.Gly152Val)]

NM_001005187.1(OR6T1):c.455G>T (p.Gly152Val)

Gene:
OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.1
Genomic location:
Preferred name:
NM_001005187.1(OR6T1):c.455G>T (p.Gly152Val)
HGVS:
  • NC_000011.10:g.123943384C>A
  • NM_001005187.1:c.455G>TMANE SELECT
  • NP_001005187.1:p.Gly152Val
  • NC_000011.9:g.123814091C>A
Protein change:
G152V
Molecular consequence:
  • NM_001005187.1:c.455G>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
SCV005145423Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 15, 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, SCV005145423.1

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

Description

The c.455G>T (p.G152V) alteration is located in exon 1 (coding exon 1) of the OR6T1 gene. This alteration results from a G to T substitution at nucleotide position 455, causing the glycine (G) at amino acid position 152 to be replaced by a valine (V). 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