NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 6, 2022
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:: RCV000485185.3

Allele description [Variation Report for NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)]

NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)

Gene:

SLC17A5:solute carrier family 17 member 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)

HGVS:

NC_000006.11:g.74345108_74345122del
NC_000006.12:g.73635386_73635400del
NG_008272.1:g.23616_23630del
NM_001382629.1:c.571_585del
NM_001382630.1:c.802_816del
NM_001382631.1:c.823_837del
NM_001382632.1:c.715_729del
NM_001382633.1:c.802_816del
NM_001382634.1:c.802_816del
NM_001382635.1:c.799_813del
NM_001382636.1:c.484_498del
NM_012434.5:c.802_816delMANE SELECT
NP_001369558.1:p.Ser191_Asn195del
NP_001369559.1:p.Ser268_Asn272del
NP_001369560.1:p.Ser275_Asn279del
NP_001369561.1:p.Ser239_Asn243del
NP_001369562.1:p.Ser268_Asn272del
NP_001369563.1:p.Ser268_Asn272del
NP_001369564.1:p.Ser267_Asn271del
NP_001369565.1:p.Ser162_Asn166del
NP_036566.1:p.Ser268_Asn272del
NC_000006.11:g.74345108_74345122del
NC_000006.11:g.74345109_74345123del
NC_000006.11:g.74345109_74345123delTTTCTTAATGATGAA
NM_012434.4:c.802_816delTCATCATTAAGAAAT
NM_012434.5:c.802_816delTCATCATTAAGAAATMANE SELECT

Links:

OMIM: 604322.0007; dbSNP: rs386833994

NCBI 1000 Genomes Browser:

rs386833994

Molecular consequence:

NM_001382629.1:c.571_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382630.1:c.802_816del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382631.1:c.823_837del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382632.1:c.715_729del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382633.1:c.802_816del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382634.1:c.802_816del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382635.1:c.799_813del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001382636.1:c.484_498del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_012434.5:c.802_816del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568752	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568752

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 6, 2022)

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, SCV000568752.5

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 5 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15516337, 12121352, 15510212, 12359136, 21781115, 12794688, 10069709, 15805149, 10947946, 2334213, 16170568, 10581036)

#	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: Feb 25, 2025

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