NM_001386096.1(OR2A25):c.839T>C (p.Phe280Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 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:: RCV004274333.1

Allele description [Variation Report for NM_001386096.1(OR2A25):c.839T>C (p.Phe280Ser)]

NM_001386096.1(OR2A25):c.839T>C (p.Phe280Ser)

Gene:

OR2A25:olfactory receptor family 2 subfamily A member 25 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q35

Genomic location:

Preferred name:

NM_001386096.1(OR2A25):c.839T>C (p.Phe280Ser)

HGVS:

NC_000007.14:g.144075058T>C
NM_001004488.2:c.839T>C
NM_001386096.1:c.839T>CMANE SELECT
NP_001004488.1:p.Phe280Ser
NP_001373025.1:p.Phe280Ser
NC_000007.13:g.143772151T>C
NM_001004488.1:c.839T>C

Protein change:

F280S

Molecular consequence:

NM_001004488.2:c.839T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001386096.1:c.839T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha...
Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 [Mus musculus]
Gene ID:16531

Gene
Gene Links for Protein (Select 111607492) (1)
Gene
Zinc finger protein Gfi-1b [Salmo salar]
Zinc finger protein Gfi-1b [Salmo salar]
gi|209154630|gb|ACI33547.1|

Protein
Senecio zimapanicus internal transcribed spacer 2, partial sequence
Senecio zimapanicus internal transcribed spacer 2, partial sequence
gi|8132514|gb|AF161686.1|

Nucleotide
Oculootodental syndrome
Oculootodental syndrome

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003905631	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003905631

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003905631.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.839T>C (p.F280S) alteration is located in exon 1 (coding exon 1) of the OR2A25 gene. This alteration results from a T to C substitution at nucleotide position 839, causing the phenylalanine (F) at amino acid position 280 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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