NM_006517.5(SLC16A2):c.-114GGCAGC[4] AND Inborn genetic diseases

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 31, 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:: RCV002312336.9

Allele description [Variation Report for NM_006517.5(SLC16A2):c.-114GGCAGC[4]]

NM_006517.5(SLC16A2):c.-114GGCAGC[4]

Gene:

SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xq13.2

Genomic location:

Preferred name:

NM_006517.5(SLC16A2):c.-114GGCAGC[4]

HGVS:

NC_000023.11:g.74421524GGCAGC[4]
NG_011641.2:g.5275GGCAGC[4]
NM_006517.5:c.-114GGCAGC[4]MANE SELECT
NC_000023.10:g.73641358_73641359insGGCAGC
NC_000023.10:g.73641359GGCAGC[4]
NM_006517.3:c.121_126dupGGCAGC
NM_006517.5:c.-102_-97dupMANE SELECT

Links:

dbSNP: rs760787234

NCBI 1000 Genomes Browser:

rs760787234

Molecular consequence:

NM_006517.5:c.-114GGCAGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000846417	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Jul 31, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000846417

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Jul 31, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Genetics and phenomics of thyroid hormone transport by MCT8.

Friesema EC, Visser WE, Visser TJ.

Mol Cell Endocrinol. 2010 Jun 30;322(1-2):107-13. doi: 10.1016/j.mce.2010.01.016. Epub 2010 Jan 18. Review.

PubMed [citation]

PMID:: 20083155

Details of each submission

From Ambry Genetics, SCV000846417.5

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

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.

#	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 24, 2024

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