NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 1, 2020
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:: RCV001311413.22

Allele description [Variation Report for NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs)]

NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs)

Gene:

SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs)

HGVS:

NC_000023.11:g.153694164_153694174del
NG_012016.2:g.10868_10878del
NM_001142805.2:c.1259_1269del
NM_001142806.1:c.944_954del
NM_005629.4:c.1289_1299delMANE SELECT
NP_001136277.1:p.Leu420fs
NP_001136278.1:p.Leu315fs
NP_005620.1:p.Leu430fs
NC_000023.10:g.152959619_152959629del
NG_012016.1:g.10868_10878del

Protein change:

L315fs

Links:

dbSNP: rs2091474187

NCBI 1000 Genomes Browser:

rs2091474187

Molecular consequence:

NM_001142805.2:c.1259_1269del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142806.1:c.944_954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005629.4:c.1289_1299del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001501573	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Aug 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001501573

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Aug 1, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001501573.23

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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