NM_020975.6(RET):c.1649-4G>A AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001012564.1

Allele description [Variation Report for NM_020975.6(RET):c.1649-4G>A]

NM_020975.6(RET):c.1649-4G>A

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.1649-4G>A
HGVS:
  • NC_000010.11:g.43112849G>A
  • NG_007489.1:g.40781G>A
  • NM_001355216.1:c.887-4G>A
  • NM_020630.6:c.1649-4G>A
  • NM_020975.6:c.1649-4G>AMANE SELECT
  • LRG_518t1:c.1649-4G>A
  • LRG_518:g.40781G>A
  • NC_000010.10:g.43608297G>A
  • NM_020975.4:c.1649-4G>A
Links:
dbSNP: rs369769303
NCBI 1000 Genomes Browser:
rs369769303
Molecular consequence:
  • NM_001355216.1:c.887-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020630.6:c.1649-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020975.6:c.1649-4G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001173032Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 7, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001173032.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1649-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 9 in the RET gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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