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NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer) AND NAV2-related neurodevelopmental condition

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 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:
RCV002253063.3

Allele description [Variation Report for NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer)]

NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer)

Gene:
NAV2:neuron navigator 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_145117.5(NAV2):c.6580del (p.Tyr2193_Ile2194insTer)
Other names:
p.Ile2253*
HGVS:
  • NC_000011.10:g.20103660del
  • NG_030347.1:g.757936del
  • NM_001111018.2:c.6388del
  • NM_001111019.3:c.3772del
  • NM_001244963.2:c.6757del
  • NM_145117.5:c.6580delMANE SELECT
  • NM_182964.6:c.6589del
  • NP_001104488.1:p.Tyr2129_Ile2130insTer
  • NP_001104489.1:p.Tyr1257_Ile1258insTer
  • NP_001231892.1:p.Tyr2252_Ile2253insTer
  • NP_660093.2:p.Tyr2193_Ile2194insTer
  • NP_892009.3:p.Tyr2196_Ile2197insTer
  • NC_000011.9:g.20125206del
  • NM_001244963.2:c.6757delA
Links:
dbSNP: rs2153703273
NCBI 1000 Genomes Browser:
rs2153703273
Molecular consequence:
  • NM_001111018.2:c.6388del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001111019.3:c.3772del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244963.2:c.6757del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_145117.5:c.6580del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_182964.6:c.6589del - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
absent gene product [Sequence Ontology: SO:0002317]
Observations:
1

Condition(s)

Name:
NAV2-related neurodevelopmental condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523174Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 6, 2018) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes11not 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

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV002523174.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This individual has been published in PMID: 35218524.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 13, 2025