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NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2015
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:
RCV000623348.2

Allele description [Variation Report for NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro)]

NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro)

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.190T>C (p.Ser64Pro)
HGVS:
  • NC_000023.11:g.153688764T>C
  • NG_012016.1:g.5468T>C
  • NG_012016.2:g.5468T>C
  • NM_001142805.2:c.190T>C
  • NM_005629.4:c.190T>CMANE SELECT
  • NP_001136277.1:p.Ser64Pro
  • NP_005620.1:p.Ser64Pro
  • NC_000023.10:g.152954219T>C
  • NM_005629.3:c.190T>C
Protein change:
S64P
Links:
dbSNP: rs1557043854
NCBI 1000 Genomes Browser:
rs1557043854
Molecular consequence:
  • NM_001142805.2:c.190T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005629.4:c.190T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000741078Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Uncertain significance
(Oct 28, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741078.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023