U.S. flag

An official website of the United States government

NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 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:
RCV000996958.12

Allele description [Variation Report for NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala)]

NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala)

Gene:
TRPM4:transient receptor potential cation channel subfamily M member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala)
HGVS:
  • NC_000019.10:g.49171416A>G
  • NG_027551.2:g.18658A>G
  • NM_001195227.2:c.856A>G
  • NM_001321281.2:c.511A>G
  • NM_001321282.2:c.-698A>G
  • NM_001321283.2:c.334A>G
  • NM_001321285.2:c.7A>G
  • NM_017636.4:c.856A>GMANE SELECT
  • NP_001182156.1:p.Thr286Ala
  • NP_001308210.1:p.Thr171Ala
  • NP_001308212.1:p.Thr112Ala
  • NP_001308214.1:p.Thr3Ala
  • NP_060106.2:p.Thr286Ala
  • NC_000019.9:g.49674673A>G
  • NG_027551.1:g.18658A>G
  • NM_017636.3:c.856A>G
Protein change:
T112A
Links:
dbSNP: rs151205002
NCBI 1000 Genomes Browser:
rs151205002
Molecular consequence:
  • NM_001321282.2:c.-698A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195227.2:c.856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321281.2:c.511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321283.2:c.334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321285.2:c.7A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017636.4:c.856A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001791172GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 29, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001791172.3

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

Description

Identified in a patient with Sudden Infant Death syndrome (SIDS) who also harbored the c.1690_1692dupCTT variant in the TRPM4 gene (Campuzano et al., 2018); At the protein level, in silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30086531)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024