NM_024080.5(TRPM8):c.2815C>A (p.Leu939Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 3, 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:: RCV004260416.1

Allele description [Variation Report for NM_024080.5(TRPM8):c.2815C>A (p.Leu939Met)]

NM_024080.5(TRPM8):c.2815C>A (p.Leu939Met)

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.2815C>A (p.Leu939Met)

HGVS:

NC_000002.12:g.233985741C>A
NM_001397606.1:c.2815C>A
NM_001397607.1:c.2665C>A
NM_001397608.1:c.2815C>A
NM_001397609.1:c.2584C>A
NM_001397610.1:c.2584C>A
NM_001397611.1:c.2584C>A
NM_001397612.1:c.2584C>A
NM_001397613.1:c.2584C>A
NM_001397614.1:c.1630C>A
NM_001397615.1:c.1630C>A
NM_001397617.1:c.415C>A
NM_001397619.1:c.1630C>A
NM_001397620.1:c.415C>A
NM_001397621.1:c.415C>A
NM_001397622.1:c.415C>A
NM_001397623.1:c.415C>A
NM_001397624.1:c.415C>A
NM_001397625.1:c.415C>A
NM_001397635.1:c.1969C>A
NM_024080.5:c.2815C>AMANE SELECT
NP_001384535.1:p.Leu939Met
NP_001384536.1:p.Leu889Met
NP_001384537.1:p.Leu939Met
NP_001384538.1:p.Leu862Met
NP_001384539.1:p.Leu862Met
NP_001384540.1:p.Leu862Met
NP_001384541.1:p.Leu862Met
NP_001384542.1:p.Leu862Met
NP_001384543.1:p.Leu544Met
NP_001384544.1:p.Leu544Met
NP_001384546.1:p.Leu139Met
NP_001384548.1:p.Leu544Met
NP_001384549.1:p.Leu139Met
NP_001384550.1:p.Leu139Met
NP_001384551.1:p.Leu139Met
NP_001384552.1:p.Leu139Met
NP_001384553.1:p.Leu139Met
NP_001384554.1:p.Leu139Met
NP_001384564.1:p.Leu657Met
NP_076985.4:p.Leu939Met
NC_000002.11:g.234894385C>A
NM_024080.4:c.2815C>A

Protein change:

L139M

Molecular consequence:

NM_001397606.1:c.2815C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397607.1:c.2665C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397608.1:c.2815C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397609.1:c.2584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397610.1:c.2584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397611.1:c.2584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397612.1:c.2584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397613.1:c.2584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397614.1:c.1630C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397615.1:c.1630C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397617.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397619.1:c.1630C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397620.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397621.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397622.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397623.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397624.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397625.1:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001397635.1:c.1969C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024080.5:c.2815C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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RecName: Full=Armadillo repeat-containing X-linked protein 5
RecName: Full=Armadillo repeat-containing X-linked protein 5
gi|74749066|sp|Q6P1M9.1|ARMX5_HUMAN

Protein
PubChem Substance Links for Gene (Select 101928554) (5)
PubChem Substance
LIM and senescent cell antigen-like-containing domain protein 1 isoform 6 [Mus m...
LIM and senescent cell antigen-like-containing domain protein 1 isoform 6 [Mus musculus]
gi|1315690792|ref|NP_001346045.1|

Protein
aquaporin-11 isoform 1 [Homo sapiens]
aquaporin-11 isoform 1 [Homo sapiens]
gi|27370565|ref|NP_766627.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003880320	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 3, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003880320

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 3, 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, SCV003880320.2

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

Description

The c.2815C>A (p.L939M) alteration is located in exon 21 (coding exon 20) of the TRPM8 gene. This alteration results from a C to A substitution at nucleotide position 2815, causing the leucine (L) at amino acid position 939 to be replaced by a methionine (M). 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 3, 2024

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