NM_024080.5(TRPM8):c.1466C>T (p.Thr489Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 4, 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:: RCV004468809.1

Allele description [Variation Report for NM_024080.5(TRPM8):c.1466C>T (p.Thr489Ile)]

NM_024080.5(TRPM8):c.1466C>T (p.Thr489Ile)

Gene:

TRPM8:transient receptor potential cation channel subfamily M member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_024080.5(TRPM8):c.1466C>T (p.Thr489Ile)

HGVS:

NC_000002.12:g.233960879C>T
NM_001397606.1:c.1466C>T
NM_001397607.1:c.1316C>T
NM_001397608.1:c.1466C>T
NM_001397609.1:c.1235C>T
NM_001397610.1:c.1235C>T
NM_001397611.1:c.1235C>T
NM_001397612.1:c.1235C>T
NM_001397613.1:c.1235C>T
NM_001397614.1:c.281C>T
NM_001397615.1:c.281C>T
NM_001397619.1:c.281C>T
NM_001397635.1:c.620C>T
NM_024080.5:c.1466C>TMANE SELECT
NP_001384535.1:p.Thr489Ile
NP_001384536.1:p.Thr439Ile
NP_001384537.1:p.Thr489Ile
NP_001384538.1:p.Thr412Ile
NP_001384539.1:p.Thr412Ile
NP_001384540.1:p.Thr412Ile
NP_001384541.1:p.Thr412Ile
NP_001384542.1:p.Thr412Ile
NP_001384543.1:p.Thr94Ile
NP_001384544.1:p.Thr94Ile
NP_001384548.1:p.Thr94Ile
NP_001384564.1:p.Thr207Ile
NP_076985.4:p.Thr489Ile
NC_000002.11:g.234869523C>T
NM_024080.4:c.1466C>T

Protein change:

T207I

Molecular consequence:

NM_001397606.1:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397607.1:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397608.1:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397609.1:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397610.1:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397611.1:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397612.1:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397613.1:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397614.1:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397615.1:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397619.1:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001397635.1:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024080.5:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Homo sapiens small nucleolar RNA host gene 5 (SNHG5), long non-coding RNA
Homo sapiens small nucleolar RNA host gene 5 (SNHG5), long non-coding RNA
gi|157042796|ref|NR_003038.2|

Nucleotide
Graminicola bengalensis voucher NRM 20046789 ornithine decarboxylase (ODC) gene,...
Graminicola bengalensis voucher NRM 20046789 ornithine decarboxylase (ODC) gene, exons 6, 7 and partial cds
gi|229905345|gb|FJ358034.1|

Nucleotide
apolipoprotein b, partial [Plecotus gaisleri]
apolipoprotein b, partial [Plecotus gaisleri]
gi|307827973|gb|ADN94893.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004972316	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 4, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004972316

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 4, 2024)

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, SCV004972316.1

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

Description

The c.1466C>T (p.T489I) alteration is located in exon 12 (coding exon 11) of the TRPM8 gene. This alteration results from a C to T substitution at nucleotide position 1466, causing the threonine (T) at amino acid position 489 to be replaced by an isoleucine (I). 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: May 7, 2024

ClinVar

Relating variation to medicine