NM_001379110.1(SLC9A6):c.465del (p.Ser158fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 7, 2018
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:: RCV001266270.2

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.465del (p.Ser158fs)]

NM_001379110.1(SLC9A6):c.465del (p.Ser158fs)

Gene:

SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001379110.1(SLC9A6):c.465del (p.Ser158fs)

HGVS:

NC_000023.11:g.135998499del
NG_017160.1:g.18073del
NM_001042537.2:c.621del
NM_001177651.2:c.465del
NM_001330652.2:c.369del
NM_001379110.1:c.465delMANE SELECT
NM_006359.3:c.525del
NP_001036002.1:p.Ser210fs
NP_001171122.1:p.Ser158fs
NP_001317581.1:p.Ser126fs
NP_001366039.1:p.Ser158fs
NP_006350.1:p.Ser178fs
NC_000023.10:g.135080658del
NM_006359.2:c.525delT

Protein change:

S126fs

Links:

dbSNP: rs2089536867

NCBI 1000 Genomes Browser:

rs2089536867

Molecular consequence:

NM_001042537.2:c.621del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001177651.2:c.465del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330652.2:c.369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379110.1:c.465del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006359.3:c.525del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV001444443	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Feb 7, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444443

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Feb 7, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001444443.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/Native American	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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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