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NM_013939.2(OR10H2):c.43G>C (p.Val15Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 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:
RCV004162731.1

Allele description [Variation Report for NM_013939.2(OR10H2):c.43G>C (p.Val15Leu)]

NM_013939.2(OR10H2):c.43G>C (p.Val15Leu)

Gene:
OR10H2:olfactory receptor family 10 subfamily H member 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_013939.2(OR10H2):c.43G>C (p.Val15Leu)
HGVS:
  • NC_000019.10:g.15728086G>C
  • NM_013939.2:c.43G>CMANE SELECT
  • NP_039227.1:p.Val15Leu
  • NC_000019.9:g.15838896G>C
Protein change:
V15L
Molecular consequence:
  • NM_013939.2:c.43G>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
SCV003648586Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 22, 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, SCV003648586.2

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

Description

The c.43G>C (p.V15L) alteration is located in exon 1 (coding exon 1) of the OR10H2 gene. This alteration results from a G to C substitution at nucleotide position 43, causing the valine (V) at amino acid position 15 to be replaced by a leucine (L). 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