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NM_020859.3(SHROOM3):c.5736C>T (p.Tyr1912=) 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:
RCV000061052.2

Allele description

NM_020859.3(SHROOM3):c.5736C>T (p.Tyr1912=)

Gene:
SHROOM3:shroom family member 3 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.1
Genomic location:
Preferred name:
NM_020859.3(SHROOM3):c.5736C>T (p.Tyr1912=)
HGVS:
  • NC_000004.12:g.76778922C>T
  • NG_028077.1:g.348823C>T
  • NM_020859.3:c.5736C>T
  • NP_065910.3:p.Tyr1912=
  • NC_000004.10:g.77919099C>T
  • NC_000004.11:g.77700075C>T
Links:
dbSNP: rs148475136
NCBI 1000 Genomes Browser:
rs148475136
Molecular consequence:
  • NM_020859.3:c.5736C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000092622Samuels Laboratory; NHGRI/NIH
no classification provided
not providedsomaticnot provided

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, SCV000092622.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided112Tnot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2015