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NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln) 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:
RCV000144721.2

Allele description [Variation Report for NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln)]

NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln)

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.932G>A (p.Arg311Gln)
HGVS:
  • NC_000020.11:g.62965153G>A
  • NG_041785.1:g.17507G>A
  • NM_001302643.2:c.914G>A
  • NM_022082.4:c.932G>AMANE SELECT
  • NP_001289572.2:p.Arg305Gln
  • NP_071365.4:p.Arg311Gln
  • NC_000020.10:g.61596505G>A
  • NM_022082.3:c.932G>A
  • Q9BYT1:p.Arg311Gln
Protein change:
R305Q; ARG311GLN
Links:
UniProtKB: Q9BYT1#VAR_071984; OMIM: 612107.0001; dbSNP: rs606231251
NCBI 1000 Genomes Browser:
rs606231251
Molecular consequence:
  • NM_001302643.2:c.914G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022082.4:c.932G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190927OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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, SCV000190927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected individuals from a 3-generation Chinese family with disseminated superficial actinic porokeratosis-8 (POROK8; 616063), Cui et al. (2014) identified heterozygosity for a c.932G-A transition in exon 10 of the SLC17A9 gene, resulting in an arg311-to-gln (R311Q) substitution at a highly conserved residue in the major facilitator superfamily (MFS) domain, general substrate transporter. The mutation was not found in unaffected family members or in 1,457 unrelated controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022