NM_000392.5(ABCC2):c.2747+10_2747+11insGAATAGATAGCT AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 29, 2023
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:: RCV003564367.2

Allele description [Variation Report for NM_000392.5(ABCC2):c.2747+10_2747+11insGAATAGATAGCT]

NM_000392.5(ABCC2):c.2747+10_2747+11insGAATAGATAGCT

Genes:

ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
LOC126861012:BRD4-independent group 4 enhancer GRCh37_chr10:101589748-101590947 [Gene]

Variant type:

Insertion

Cytogenetic location:

10q24.2

Genomic location:

Preferred name:

NM_000392.5(ABCC2):c.2747+10_2747+11insGAATAGATAGCT

HGVS:

NC_000010.11:g.99830443_99830444insGAATAGATAGCT
NG_011798.2:g.52846_52847insGAATAGATAGCT
NG_085511.1:g.553_554insGAATAGATAGCT
NM_000392.5:c.2747+10_2747+11insGAATAGATAGCTMANE SELECT
LRG_1208t1:c.2747+10_2747+11insGAATAGATAGCT
LRG_1208:g.52846_52847insGAATAGATAGCT
NC_000010.10:g.101590200_101590201insGAATAGATAGCT

Molecular consequence:

NM_000392.5:c.2747+10_2747+11insGAATAGATAGCT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Didemnum vexillum voucher Dv-19-127 cytochrome c oxidase subunit I (COX1) gene, ...
Didemnum vexillum voucher Dv-19-127 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrial
gi|1951773330|gb|MW425679.1|

Nucleotide
transcription factor SOX-11a [Danio rerio]
transcription factor SOX-11a [Danio rerio]
gi|18859399|ref|NP_571411.1|

Protein
GLO1 [Moschus berezovskii]
GLO1 [Moschus berezovskii]
Gene ID:129543479

Gene
ASGR2 [Moschus berezovskii]
ASGR2 [Moschus berezovskii]
Gene ID:129542566

Gene
Proactive Inhibition
Proactive Inhibition
The state or process hypothesized to account for poorer learning rate for elements later in a series as compared to the learning rate for elements coming earlier in a series....<br/>Year introduced: 1991(1975)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004317217	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 29, 2023)	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

SCV004317217

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 29, 2023)

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004317217.1

#	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: Sep 29, 2024

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