NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 27, 2022
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:: RCV002530018.2

Allele description [Variation Report for NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)]

NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)

Gene:

TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)

HGVS:

NC_000012.12:g.109786800G>C
NG_017090.1:g.51608C>G
NM_001177428.1:c.2105C>G
NM_001177431.1:c.2144C>G
NM_001177433.1:c.1925C>G
NM_021625.5:c.2246C>GMANE SELECT
NM_147204.2:c.2066C>G
NP_001170899.1:p.Pro702Arg
NP_001170902.1:p.Pro715Arg
NP_001170904.1:p.Pro642Arg
NP_067638.3:p.Pro749Arg
NP_067638.3:p.Pro749Arg
NP_671737.1:p.Pro689Arg
LRG_372t1:c.2246C>G
LRG_372:g.51608C>G
LRG_372p1:p.Pro749Arg
NC_000012.11:g.110224605G>C
NM_021625.4:c.2246C>G

Protein change:

P642R

Links:

dbSNP: rs1555205050

NCBI 1000 Genomes Browser:

rs1555205050

Molecular consequence:

NM_001177428.1:c.2105C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001177431.1:c.2144C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001177433.1:c.1925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021625.5:c.2246C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_147204.2:c.2066C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003649483	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003649483

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 27, 2022)

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, SCV003649483.2

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

Description

The c.2246C>G (p.P749R) alteration is located in exon 14 (coding exon 13) of the TRPV4 gene. This alteration results from a C to G substitution at nucleotide position 2246, causing the proline (P) at amino acid position 749 to be replaced by an arginine (R). 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 1, 2024

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