NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 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:: RCV003319695.1

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp)]

NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp)

Gene:

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

Variant type:

Indel

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp)

HGVS:

NC_000016.10:g.56884057_56884058delinsGA
NG_009386.2:g.23851_23852delinsGA
NM_000339.3:c.1678_1679delinsGA
NM_001126107.2:c.1675_1676delinsGA
NM_001126108.2:c.1678_1679delinsGAMANE SELECT
NM_001410896.1:c.1675_1676delinsGA
NP_000330.3:p.Pro560Asp
NP_001119579.2:p.Pro559Asp
NP_001119580.2:p.Pro560Asp
NP_001397825.1:p.Pro559Asp
NC_000016.9:g.56917969_56917970delinsGA
NM_000339.2:c.1678_1679delinsGA

Protein change:

P559D

Molecular consequence:

NM_000339.3:c.1678_1679delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126107.2:c.1675_1676delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126108.2:c.1678_1679delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001410896.1:c.1675_1676delinsGA - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004023619	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004023619

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 1, 2023)

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, SCV004023619.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Aug 13, 2023

ClinVar

Relating variation to medicine