NM_000268.3(NF2):c.1739_1747delTCACCTTGC AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Dec 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001012929.1

Allele description [Variation Report for NM_000268.3(NF2):c.1739_1747delTCACCTTGC]

NM_000268.3(NF2):c.1739_1747delTCACCTTGC

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.3(NF2):c.1739_1747delTCACCTTGC
HGVS:
  • NC_000022.11:g.29694753_29694761del
  • NG_009057.1:g.96198_96206del
  • LRG_511t1:c.1739_1747del
  • LRG_511:g.96198_96206del
  • NC_000022.10:g.30090740_30090748delGCTCACCTT
  • NC_000022.10:g.30090742_30090750del
  • NM_000268.3:c.1739_1747del
  • NM_000268.3:c.1739_1747delTCACCTTGC
Links:
dbSNP: rs1060503674
NCBI 1000 Genomes Browser:
rs1060503674
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
SCV001173450Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 26, 2018)
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, SCV001173450.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1739_1747delTCACCTTGC variant (also known as p.L580_L582del) is located in coding exon 16 of the NF2 gene. This variant results from an in-frame TCACCTTGC deletion at nucleotide positions 1739 to 1747. This results in the in-frame deletion of 3 amino acids between codons 580 and 582. These amino acid positions are highly conserved in available vertebrate species. 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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