NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2019
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:: RCV000791172.3

Allele description [Variation Report for NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)]

NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)

Gene:

TNPO3:transportin 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)

HGVS:

NC_000007.14:g.128970204del
NG_023428.1:g.89970del
NM_001191028.3:c.2350del
NM_001382216.1:c.2644del
NM_001382217.1:c.2623del
NM_001382218.1:c.2542del
NM_001382219.1:c.2434del
NM_001382220.1:c.2401del
NM_001382221.1:c.2398del
NM_001382222.1:c.2395del
NM_001382223.1:c.2350del
NM_012470.4:c.2542delMANE SELECT
NP_001177957.2:p.Tyr784fs
NP_001369145.1:p.Tyr882fs
NP_001369146.1:p.Tyr875fs
NP_001369147.1:p.Tyr848fs
NP_001369148.1:p.Tyr812fs
NP_001369149.1:p.Tyr801fs
NP_001369150.1:p.Tyr800fs
NP_001369151.1:p.Tyr799fs
NP_001369152.1:p.Tyr784fs
NP_036602.1:p.Tyr848fs
NP_036602.1:p.Tyr848fs
NC_000007.13:g.128610258del
NM_012470.3:c.2542del
NM_012470.3:c.2542delT
NR_034053.3:n.3044del
NR_167911.1:n.3131del
NR_167912.1:n.2989del
NR_167913.1:n.2791del
NR_167914.1:n.2951del
NR_167915.1:n.3207del
NR_167916.1:n.2681del
NR_167917.1:n.2714del
NR_167918.1:n.3169del
NR_167919.1:n.3008del
NR_167920.1:n.2967del
NR_167921.1:n.3169del
NR_167922.1:n.3005del
NR_167923.1:n.2806del
NR_167924.1:n.2883del
NR_167925.1:n.2806del
NR_167926.1:n.2817del
NR_167927.1:n.3110del

Protein change:

Y784fs

Links:

dbSNP: rs773574448

NCBI 1000 Genomes Browser:

rs773574448

Molecular consequence:

NM_001191028.3:c.2350del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382216.1:c.2644del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382217.1:c.2623del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382218.1:c.2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382219.1:c.2434del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382220.1:c.2401del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382221.1:c.2398del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382222.1:c.2395del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382223.1:c.2350del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012470.4:c.2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_034053.3:n.3044del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167911.1:n.3131del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167912.1:n.2989del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167913.1:n.2791del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167914.1:n.2951del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167915.1:n.3207del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167916.1:n.2681del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167917.1:n.2714del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167918.1:n.3169del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167919.1:n.3008del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167920.1:n.2967del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167921.1:n.3169del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167922.1:n.3005del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167923.1:n.2806del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167924.1:n.2883del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167925.1:n.2806del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167926.1:n.2817del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_167927.1:n.3110del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000930448	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 27, 2019)	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

SCV000930448

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 27, 2019)

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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000930448.1

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

#	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: Sep 29, 2024

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