NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002246840.9

Allele description [Variation Report for NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG]

NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG

Gene:

SLC12A5:solute carrier family 12 member 5 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG

HGVS:

NC_000020.11:g.46022978_46022979insGAGG
NG_046341.1:g.6289_6290insGAGG
NG_046341.2:g.6294_6295insGAGG
NM_001134771.2:c.121+1092_121+1093insGAGG
NC_000020.10:g.44651617_44651618insGAGG
NC_000020.11:g.46022977_46022978insGGAG

Links:

dbSNP: rs1600581884

NCBI 1000 Genomes Browser:

rs1600581884

Molecular consequence:

NM_001134771.2:c.121+1092_121+1093insGAGG - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002516661	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Benign (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002516661

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Benign
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002516661.1

#	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

Last Updated: Nov 10, 2024

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