NM_001370259.2(MEN1):c.207del (p.Asp70fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000412904.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.207del (p.Asp70fs)]

NM_001370259.2(MEN1):c.207del (p.Asp70fs)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.207del (p.Asp70fs)
HGVS:
  • NC_000011.10:g.64809907del
  • NG_008929.1:g.6392del
  • NM_000244.4:c.207del
  • NM_001370251.2:c.207del
  • NM_001370259.2:c.207delMANE SELECT
  • NM_001370260.2:c.207del
  • NM_001370261.2:c.207del
  • NM_001370262.2:c.207del
  • NM_001370263.2:c.207del
  • NM_130799.3:c.207del
  • NM_130800.3:c.207del
  • NM_130801.3:c.207del
  • NM_130802.3:c.207del
  • NM_130803.3:c.207del
  • NM_130804.3:c.207del
  • NP_000235.3:p.Asp70fs
  • NP_001357180.2:p.Asp70fs
  • NP_001357188.2:p.Asp70fs
  • NP_001357189.2:p.Asp70fs
  • NP_001357190.2:p.Asp70fs
  • NP_001357191.2:p.Asp70fs
  • NP_001357192.2:p.Asp70fs
  • NP_570711.2:p.Asp70fs
  • NP_570712.2:p.Asp70fs
  • NP_570713.2:p.Asp70fs
  • NP_570714.2:p.Asp70fs
  • NP_570715.2:p.Asp70fs
  • NP_570716.2:p.Asp70fs
  • LRG_509:g.6392del
  • NC_000011.9:g.64577375del
  • NC_000011.9:g.64577379del
  • NM_130799.2:c.207delC
Protein change:
D70fs
Links:
dbSNP: rs1057517902
NCBI 1000 Genomes Browser:
rs1057517902
Molecular consequence:
  • NM_000244.4:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370251.2:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370259.2:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370260.2:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370261.2:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370262.2:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370263.2:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130799.3:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130800.3:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130801.3:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130802.3:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130803.3:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130804.3:c.207del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491019GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 22, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000491019.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.207del C variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type I (MEN1) (for examples, see Agarwal et al., 1997; White et al., 2010; Sala et al., 2013). This deletion causes a frameshift starting with codon Aspartic Acid 70, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Asp70ThrfsX49. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.207delC to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024