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NM_001004719.2(OR4M2):c.581C>T (p.Pro194Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 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:
RCV004340895.1

Allele description [Variation Report for NM_001004719.2(OR4M2):c.581C>T (p.Pro194Leu)]

NM_001004719.2(OR4M2):c.581C>T (p.Pro194Leu)

Genes:
OR4M2-OT1:OR4M2 overlapping transcript 1 [Gene - HGNC]
OR4M2:olfactory receptor family 4 subfamily M member 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q11.2
Genomic location:
Preferred name:
NM_001004719.2(OR4M2):c.581C>T (p.Pro194Leu)
HGVS:
  • NC_000015.10:g.22081205C>T
  • NM_001004719.2:c.581C>TMANE SELECT
  • NP_001004719.2:p.Pro194Leu
  • NC_000015.9:g.22369156C>T
Protein change:
P194L
Molecular consequence:
  • NM_001004719.2:c.581C>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
SCV004060000Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 19, 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, SCV004060000.2

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

Description

The c.581C>T (p.P194L) alteration is located in exon 1 (coding exon 1) of the OR4M2 gene. This alteration results from a C to T substitution at nucleotide position 581, causing the proline (P) at amino acid position 194 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 3, 2024