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NM_198291.3(SRC):c.846C>T (p.Gly282=) AND not provided

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:
RCV000084819.1

Allele description [Variation Report for NM_198291.3(SRC):c.846C>T (p.Gly282=)]

NM_198291.3(SRC):c.846C>T (p.Gly282=)

Gene:
SRC:SRC proto-oncogene, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_198291.3(SRC):c.846C>T (p.Gly282=)
HGVS:
  • NC_000020.11:g.37397841C>T
  • NG_023033.1:g.58157C>T
  • NM_005417.5:c.846C>T
  • NM_198291.3:c.846C>TMANE SELECT
  • NP_005408.1:p.Gly282=
  • NP_938033.1:p.Gly282=
  • LRG_1018:g.58157C>T
  • NC_000020.10:g.36026244C>T
Links:
dbSNP: rs367543242
NCBI 1000 Genomes Browser:
rs367543242
Molecular consequence:
  • NM_005417.5:c.846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198291.3:c.846C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116955Psychiatry Genetics Yale University
no classification provided
not providednot providednot provided

Summary from all submissions

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

Details of each submission

From Psychiatry Genetics Yale University, SCV000116955.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022