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NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000765043.2

Allele description [Variation Report for NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)]

NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)

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.184G>A (p.Asp62Asn)
HGVS:
  • NC_000012.12:g.109814613C>T
  • NG_017090.1:g.23795G>A
  • NM_001177428.1:c.184G>A
  • NM_001177431.1:c.82G>A
  • NM_001177433.1:c.184G>A
  • NM_021625.5:c.184G>AMANE SELECT
  • NM_147204.2:c.184G>A
  • NP_001170899.1:p.Asp62Asn
  • NP_001170902.1:p.Asp28Asn
  • NP_001170904.1:p.Asp62Asn
  • NP_067638.3:p.Asp62Asn
  • NP_067638.3:p.Asp62Asn
  • NP_671737.1:p.Asp62Asn
  • LRG_372t1:c.184G>A
  • LRG_372:g.23795G>A
  • LRG_372p1:p.Asp62Asn
  • NC_000012.11:g.110252418C>T
  • NM_021625.4:c.184G>A
  • NM_021625.5:c.184G>A
Protein change:
D28N
Links:
dbSNP: rs770149544
NCBI 1000 Genomes Browser:
rs770149544
Molecular consequence:
  • NM_001177428.1:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.184G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brachyrachia (short spine dysplasia) (BCYM3)
Synonyms:
Brachyolmia autosomal dominant; Brachyrachia; Brachyolmia Type 3
Identifiers:
MONDO: MONDO:0007232; MedGen: C0432227; Orphanet: 93304; OMIM: 113500
Name:
Familial digital arthropathy-brachydactyly
Identifiers:
MONDO: MONDO:0011732; MedGen: C1847406; Orphanet: 85169; OMIM: 606835
Name:
Metatropic dysplasia (MTD)
Synonyms:
Metatropic dwarfism; Metatropic dysplasia, nonlethal dominant
Identifiers:
MONDO: MONDO:0007986; MedGen: C0265281; Orphanet: 2635; OMIM: 156530
Name:
Parastremmatic dwarfism
Identifiers:
MONDO: MONDO:0008196; MedGen: C1868616; Orphanet: 2646; OMIM: 168400
Name:
Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
Synonyms:
Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008477; MedGen: C0265280; Orphanet: 93314; OMIM: 184252
Name:
Spondyloepimetaphyseal dysplasia, Maroteaux type
Synonyms:
Spondyloepiphyseal dysplasia Maroteaux type; SED, Maroteaux type; PSEUDO-MORQUIO SYNDROME, TYPE 2
Identifiers:
MONDO: MONDO:0008473; MedGen: C3159322; Orphanet: 263482; OMIM: 184095
Name:
Neuronopathy, distal hereditary motor, autosomal dominant 8
Synonyms:
SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES; Distal spinal muscular atrophy, congenital nonprogressive; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010839; MedGen: C1838492; Orphanet: 1216; OMIM: 600175
Name:
Scapuloperoneal spinal muscular atrophy (SPSMA)
Synonyms:
Amyotrophy, neurogenic scapuloperoneal, New England type; Scapuloperoneal Form of Spinal Muscular Atrophy; Scapuloperoneal spinal muscular atrophy, autosomal dominant
Identifiers:
MONDO: MONDO:0008408; MedGen: C0751335; Orphanet: 431255; OMIM: 181405
Name:
Sodium serum level quantitative trait locus 1 (SSQTL1)
Identifiers:
MedGen: C3150755; OMIM: 613508
Name:
Charcot-Marie-Tooth disease axonal type 2C (HMSN2C)
Synonyms:
Charcot-Marie-Tooth disease type 2C; Hereditary motor and sensory neuropathy 2 C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011633; MedGen: C1853710; OMIM: 606071
Name:
Avascular necrosis of femoral head, primary, 2 (ANFH2)
Identifiers:
MONDO: MONDO:0054551; MedGen: C4479260; OMIM: 617383

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000896240Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000896240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024