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NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 16, 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:
RCV002915031.2

Allele description [Variation Report for NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val)]

NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val)

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.1723A>G (p.Ile575Val)
HGVS:
  • NC_000016.10:g.56884102A>G
  • NG_009386.2:g.23896A>G
  • NM_000339.3:c.1723A>G
  • NM_001126107.2:c.1720A>G
  • NM_001126108.2:c.1723A>GMANE SELECT
  • NM_001410896.1:c.1720A>G
  • NP_000330.3:p.Ile575Val
  • NP_001119579.2:p.Ile574Val
  • NP_001119580.2:p.Ile575Val
  • NP_001397825.1:p.Ile574Val
  • NC_000016.9:g.56918014A>G
  • NM_000339.2:c.1723A>G
Protein change:
I574V
Molecular consequence:
  • NM_000339.3:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126107.2:c.1720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126108.2:c.1723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410896.1:c.1720A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003753792Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 16, 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, SCV003753792.2

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

Description

This alteration is classified as likely 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