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NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 5, 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:
RCV002323868.2

Allele description [Variation Report for NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)]

NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)

Gene:
SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
Other names:
NM_005629.4(SLC6A8):c.1162G>A; p.Ala388Thr
HGVS:
  • NC_000023.11:g.153693925G>A
  • NG_012016.2:g.10629G>A
  • NM_001142805.2:c.1132G>A
  • NM_001142806.1:c.817G>A
  • NM_005629.4:c.1162G>AMANE SELECT
  • NP_001136277.1:p.Ala378Thr
  • NP_001136278.1:p.Ala273Thr
  • NP_005620.1:p.Ala388Thr
  • NC_000023.10:g.152959380G>A
  • NG_012016.1:g.10629G>A
  • NM_005629.3:c.1162G>A
Protein change:
A273T
Links:
dbSNP: rs374163604
NCBI 1000 Genomes Browser:
rs374163604
Molecular consequence:
  • NM_001142805.2:c.1132G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142806.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005629.4:c.1162G>A - 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
SCV002626263Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Nov 5, 2019) 		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, SCV002626263.2

#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: Oct 20, 2024