NM_002205.5(ITGA5):c.2388-20_2388-6dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 16, 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:: RCV000968254.3

Allele description [Variation Report for NM_002205.5(ITGA5):c.2388-20_2388-6dup]

NM_002205.5(ITGA5):c.2388-20_2388-6dup

Genes:

GPR84-AS1:GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 [Gene - HGNC]
ITGA5:integrin subunit alpha 5 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_002205.5(ITGA5):c.2388-20_2388-6dup

HGVS:

NC_000012.12:g.54401484_54401498dup
NC_000012.12:g.54401495_54401509dup
NM_002205.5:c.2388-20_2388-6dupMANE SELECT
NC_000012.11:g.54795279_54795293dup
NM_002205.2:c.2388-20_2388-6dupTAAACCACCCTCCTC

Links:

dbSNP: rs543547029

NCBI 1000 Genomes Browser:

rs543547029

Molecular consequence:

NM_002205.5:c.2388-20_2388-6dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001115694	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 16, 2018)	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

SCV001115694

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 16, 2018)

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001115694.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 23, 2022

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