NM_005989.4(AKR1D1):c.262-91_262-90insG AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 18, 2021
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:: RCV001667371.2

Allele description [Variation Report for NM_005989.4(AKR1D1):c.262-91_262-90insG]

NM_005989.4(AKR1D1):c.262-91_262-90insG

Gene:

AKR1D1:aldo-keto reductase family 1 member D1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

7q33

Genomic location:

Preferred name:

NM_005989.4(AKR1D1):c.262-91_262-90insG

HGVS:

NC_000007.14:g.138091677_138091678insG
NG_023342.1:g.20246_20247insG
NM_001190906.2:c.262-91_262-90insG
NM_001190907.2:c.262-91_262-90insG
NM_005989.4:c.262-91_262-90insGMANE SELECT
NC_000007.13:g.137776423_137776424insG

Links:

dbSNP: rs568836645

NCBI 1000 Genomes Browser:

rs568836645

Molecular consequence:

NM_001190906.2:c.262-91_262-90insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001190907.2:c.262-91_262-90insG - intron variant - [Sequence Ontology: SO:0001627]
NM_005989.4:c.262-91_262-90insG - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001888980	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001888980

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 18, 2021)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV001888980.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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Relating variation to medicine