NM_001126108.2(SLC12A3):c.2856+269_2856+270del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 29, 2019
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:: RCV001636191.3

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.2856+269_2856+270del]

NM_001126108.2(SLC12A3):c.2856+269_2856+270del

Gene:

SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_001126108.2(SLC12A3):c.2856+269_2856+270del

HGVS:

NC_000016.10:g.56902777_56902778del
NG_009386.2:g.42571_42572del
NM_000339.3:c.2883+269_2883+270del
NM_001126107.2:c.2880+269_2880+270del
NM_001126108.2:c.2856+269_2856+270delMANE SELECT
NC_000016.9:g.56936689_56936690del
NG_009386.1:g.42571_42572del

Links:

dbSNP: rs571731386

NCBI 1000 Genomes Browser:

rs571731386

Molecular consequence:

NM_000339.3:c.2883+269_2883+270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126107.2:c.2880+269_2880+270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126108.2:c.2856+269_2856+270del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Cynoglossus semilaevis prolyl 3-hydroxylase 2 (p3h2), transcript vari...
PREDICTED: Cynoglossus semilaevis prolyl 3-hydroxylase 2 (p3h2), transcript variant X2, mRNA
gi|1389913892|ref|XM_008329798.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001851248	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Dec 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001851248

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Dec 29, 2019)

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, SCV001851248.1

#	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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