NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu) AND Intellectual disability, autosomal recessive 54

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 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:: RCV001333800.1

Allele description [Variation Report for NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)]

NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)

Gene:

TNIK:TRAF2 and NCK interacting kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.2

Genomic location:

Preferred name:

NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)

HGVS:

NC_000003.12:g.171087499C>T
NG_054934.1:g.377910G>A
NM_001161560.3:c.2705G>A
NM_001161561.3:c.2642G>A
NM_001161562.3:c.2618G>A
NM_001161563.3:c.2564G>A
NM_001161564.3:c.2540G>A
NM_001161565.3:c.2477G>A
NM_001161566.3:c.2453G>A
NM_015028.4:c.2729G>AMANE SELECT
NP_001155032.1:p.Gly902Glu
NP_001155033.1:p.Gly881Glu
NP_001155034.1:p.Gly873Glu
NP_001155035.1:p.Gly855Glu
NP_001155036.1:p.Gly847Glu
NP_001155037.1:p.Gly826Glu
NP_001155038.1:p.Gly818Glu
NP_055843.1:p.Gly910Glu
NC_000003.11:g.170805288C>T
NM_015028.2:c.2729G>A

Protein change:

G818E

Links:

dbSNP: rs35090763

NCBI 1000 Genomes Browser:

rs35090763

Molecular consequence:

NM_001161560.3:c.2705G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161561.3:c.2642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161562.3:c.2618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161563.3:c.2564G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161564.3:c.2540G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161565.3:c.2477G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161566.3:c.2453G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015028.4:c.2729G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability, autosomal recessive 54 (MRT54)
Identifiers:: MONDO: MONDO:0014876; MedGen: C4310755; Orphanet: 88616; OMIM: 617028

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001526485	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 10, 2018)	unknown	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

SCV001526485

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 10, 2018)

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Baylor Genetics, SCV001526485.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine