NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 8, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000788754.3

Allele description [Variation Report for NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile)]

NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile)

Gene:

TAP2:transporter 2, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile)

HGVS:

NC_000006.12:g.32830662C>T
NG_009793.4:g.13109G>A
NM_000544.3:c.1417G>A
NM_001290043.2:c.1417G>AMANE SELECT
NM_018833.3:c.1417G>A
NP_000535.3:p.Val473Ile
NP_001276972.1:p.Val473Ile
NP_061313.2:p.Val473Ile
LRG_167t1:c.1417G>A
LRG_167t2:c.1417G>A
LRG_167:g.13109G>A
LRG_167p1:p.Val473Ile
LRG_167p2:p.Val473Ile
NC_000006.11:g.32798439C>T
NG_009793.3:g.13109G>A

Protein change:

V473I

Links:

dbSNP: rs765178638

NCBI 1000 Genomes Browser:

rs765178638

Molecular consequence:

NM_000544.3:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001290043.2:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018833.3:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000927983	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Oct 8, 2018)	germline	clinical testing	Citation Link,
SCV005188890	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000927983

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Oct 8, 2018)

germline

clinical testing

Citation Link,

SCV005188890

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	yes	not provided	not provided	not provided	not provided	not provided	not provided
not provided	germline	unknown	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 Blueprint Genetics, SCV000927983.1

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005188890.1

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

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

Last Updated: Sep 29, 2024

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