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NM_012434.4(SLC17A5):c.862T>C (p.Ser288Pro) AND Malignant melanoma

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000061483.2

Allele description

NM_012434.4(SLC17A5):c.862T>C (p.Ser288Pro)

Gene:
SLC17A5:solute carrier family 17 (acidic sugar transporter), member 5 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_012434.4(SLC17A5):c.862T>C (p.Ser288Pro)
HGVS:
  • NC_000006.12:g.73621920A>G
  • NG_008272.1:g.37095T>C
  • NM_012434.4:c.862T>C
  • NP_036566.1:p.Ser288Pro
  • NC_000006.10:g.74388364A>G
  • NC_000006.11:g.74331643A>G
Protein change:
S288P
Links:
dbSNP: rs79004112
NCBI 1000 Genomes Browser:
rs79004112
Molecular consequence:
  • NM_012434.4:c.862T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant melanoma
Synonyms:
Melanoma; Malignant melanoma, somatic
Identifiers:
MedGen: C0025202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000093053Samuels Laboratory; NHGRI/NIH
no classification provided
not providedsomaticnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Samuels Laboratory; NHGRI/NIH, SCV000093053.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided124Tnot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2015