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NM_001126108.2(SLC12A3):c.1825+5G>A AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 7, 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:
RCV002521055.2

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.1825+5G>A]

NM_001126108.2(SLC12A3):c.1825+5G>A

Gene:
SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_001126108.2(SLC12A3):c.1825+5G>A
HGVS:
  • NC_000016.10:g.56884209G>A
  • NG_009386.1:g.24003G>A
  • NM_000339.3:c.1825+5G>A
  • NM_001126107.2:c.1822+5G>A
  • NM_001126108.2:c.1825+5G>AMANE SELECT
  • NC_000016.9:g.56918121G>A
  • NM_000339.2:c.1825+5G>A
  • NM_001126108.2:c.1825+5G>A
Links:
dbSNP: rs368509876
NCBI 1000 Genomes Browser:
rs368509876
Molecular consequence:
  • NM_000339.3:c.1825+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126107.2:c.1822+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126108.2:c.1825+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003555139Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Oct 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003555139.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024