NM_001379110.1(SLC9A6):c.-57+21del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 4, 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:: RCV000481437.3

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.-57+21del]

NM_001379110.1(SLC9A6):c.-57+21del

Genes:

LOC130068746:ATAC-STARR-seq lymphoblastoid silent region 21025 [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.-57+21del

HGVS:

NC_000023.11:g.135985498del
NG_017160.1:g.5072del
NM_001042537.2:c.-5del
NM_001177651.2:c.-57+21del
NM_001330652.2:c.-57+26del
NM_001379110.1:c.-57+21delMANE SELECT
NM_006359.3:c.-5del
NC_000023.10:g.135067657del
NM_006359.2:c.-5delG

Links:

dbSNP: rs782431608

NCBI 1000 Genomes Browser:

rs782431608

Molecular consequence:

NM_001042537.2:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_006359.3:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001177651.2:c.-57+21del - intron variant - [Sequence Ontology: SO:0001627]
NM_001330652.2:c.-57+26del - intron variant - [Sequence Ontology: SO:0001627]
NM_001379110.1:c.-57+21del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000572220	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572220

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 4, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000572220.5

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

Last Updated: Aug 4, 2024

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