NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 6, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000118339.7

Allele description [Variation Report for NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)]

NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)

Gene:
SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)
Other names:
p.S215S:TCC>TCT
HGVS:
  • NC_000005.10:g.149041502G>A
  • NG_007947.2:g.26673C>T
  • NM_024577.3:c.645C>T
  • NM_024577.4:c.645C>TMANE SELECT
  • NP_078853.2:p.Ser215=
  • NP_078853.2:p.Ser215=
  • LRG_269t1:c.645C>T
  • LRG_269:g.26673C>T
  • LRG_269p1:p.Ser215=
  • NC_000005.9:g.148421065G>A
Links:
dbSNP: rs80227512
NCBI 1000 Genomes Browser:
rs80227512
Molecular consequence:
  • NM_024577.3:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024577.4:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000152734Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Mar 6, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000152734.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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