NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys) AND Porokeratosis 8, disseminated superficial actinic type

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000144722.2

Allele description [Variation Report for NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys)]

NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys)

Gene:

SLC17A9:solute carrier family 17 member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys)

HGVS:

NC_000020.11:g.62952855C>T
NG_041785.1:g.5209C>T
NM_001302643.2:c.-56C>T
NM_022082.4:c.25C>TMANE SELECT
NP_071365.4:p.Arg9Cys
NC_000020.10:g.61584207C>T
NM_022082.3:c.25C>T
Q9BYT1:p.Arg9Cys

Protein change:

R9C; ARG9CYS

Links:

UniProtKB: Q9BYT1#VAR_071983; OMIM: 612107.0002; dbSNP: rs548728088

NCBI 1000 Genomes Browser:

rs548728088

Molecular consequence:

NM_001302643.2:c.-56C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_022082.4:c.25C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Porokeratosis 8, disseminated superficial actinic type (POROK8)
Identifiers:: MONDO: MONDO:0014479; MedGen: C4015128; Orphanet: 79152; OMIM: 616063

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000190928	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000190928

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2014)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.

Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, et al.

J Med Genet. 2014 Oct;51(10):699-704. doi: 10.1136/jmedgenet-2014-102486. Epub 2014 Sep 1.

PubMed [citation]

PMID:: 25180256

Details of each submission

From OMIM, SCV000190928.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Chinese father and son with POROK8 (616063), Cui et al. (2014) identified heterozygosity for a c.25C-T transition in exon 2 of the SLC17A9 gene, resulting in an arg9-to-cys (R9C) substitution at a highly conserved residue in the major facilitator superfamily (MFS) domain, general substrate transporter. The mutation was not found in the proband's unaffected brother or in 1,457 unrelated controls.

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

Last Updated: May 28, 2022

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