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NM_024080.5(TRPM8):c.122T>C (p.Leu41Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 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:
RCV004468807.1

Allele description [Variation Report for NM_024080.5(TRPM8):c.122T>C (p.Leu41Ser)]

NM_024080.5(TRPM8):c.122T>C (p.Leu41Ser)

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.122T>C (p.Leu41Ser)
HGVS:
  • NC_000002.12:g.233930672T>C
  • NM_001397606.1:c.122T>C
  • NM_001397607.1:c.-75T>C
  • NM_001397608.1:c.122T>C
  • NM_001397609.1:c.-110T>C
  • NM_001397611.1:c.-220T>C
  • NM_001397613.1:c.-110T>C
  • NM_001397626.1:c.122T>C
  • NM_001397627.1:c.-75T>C
  • NM_001397628.1:c.-286T>C
  • NM_001397629.1:c.-110T>C
  • NM_024080.5:c.122T>CMANE SELECT
  • NP_001384535.1:p.Leu41Ser
  • NP_001384537.1:p.Leu41Ser
  • NP_001384555.1:p.Leu41Ser
  • NP_076985.4:p.Leu41Ser
  • NC_000002.11:g.234839317T>C
  • NM_024080.4:c.122T>C
Protein change:
L41S
Molecular consequence:
  • NM_001397607.1:c.-75T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397609.1:c.-110T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397611.1:c.-220T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397613.1:c.-110T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397627.1:c.-75T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397628.1:c.-286T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397629.1:c.-110T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397606.1:c.122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001397608.1:c.122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001397626.1:c.122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024080.5:c.122T>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
SCV004972314Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 24, 2024) 		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, SCV004972314.1

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

Description

The c.122T>C (p.L41S) alteration is located in exon 3 (coding exon 2) of the TRPM8 gene. This alteration results from a T to C substitution at nucleotide position 122, causing the leucine (L) at amino acid position 41 to be replaced by a serine (S). 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: May 7, 2024