NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del) AND Charcot-Marie-Tooth disease axonal type 2C

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 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:: RCV000798721.7

Allele description [Variation Report for NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del)]

NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del)

HGVS:

NC_000012.12:g.109798676_109798693del
NG_017090.1:g.39718_39735del
NM_001177428.1:c.935_952del
NM_001177431.1:c.974_991del
NM_001177433.1:c.935_952del
NM_021625.5:c.1076_1093delMANE SELECT
NM_147204.2:c.1076_1093del
NP_001170899.1:p.Asp312_Ala317del
NP_001170902.1:p.Asp325_Ala330del
NP_001170904.1:p.Asp312_Ala317del
NP_067638.3:p.Asp359_Ala364del
NP_671737.1:p.Asp359_Ala364del
LRG_372:g.39718_39735del
NC_000012.11:g.110236478_110236495del
NC_000012.11:g.110236481_110236498del
NM_021625.4:c.1076_1093delACAGCAACCTGGAGGCCG

Links:

dbSNP: rs1592838554

NCBI 1000 Genomes Browser:

rs1592838554

Molecular consequence:

NM_001177428.1:c.935_952del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001177431.1:c.974_991del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001177433.1:c.935_952del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_021625.5:c.1076_1093del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_147204.2:c.1076_1093del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

Recent activity

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Dmbx1 diencephalon/mesencephalon homeobox 1 [Mus musculus]
Dmbx1 diencephalon/mesencephalon homeobox 1 [Mus musculus]
Gene ID:140477

Gene
140477[uid] AND (alive[prop]) (1)
Gene
DC181658 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st61a0...
DC181658 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st61a06 5', mRNA sequence
gi|119158403|gnl|dbEST|43422877|dbj 1658.1|

Nucleotide
CBWN14718.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8919897 3', m...
CBWN14718.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8919897 3', mRNA sequence
gi|133799049|gnl|dbEST|45228653|gb| 693.1|

Nucleotide
DC068609 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC068609 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone rxl230b22 3', mRNA sequence
gi|119117270|gnl|dbEST|43382280|dbj 8609.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000938351	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000938351

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 1, 2022)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000938351.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 644738). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1076_1093del, results in the deletion of 6 amino acid(s) of the TRPV4 protein (p.Asp359_Ala364del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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