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NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?) AND Multiple endocrine neoplasia, type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2023
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:
RCV003631694.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)]

NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
HGVS:
  • NC_000011.10:g.64804335_64804336del
  • NG_008929.1:g.11959_11960del
  • NG_033040.1:g.3906_3907del
  • NG_033040.2:g.3878_3879del
  • NM_000244.4:c.1846_1847del
  • NM_001370251.2:c.1957_1958del
  • NM_001370259.2:c.1831_1832delMANE SELECT
  • NM_001370260.2:c.1831_1832del
  • NM_001370261.2:c.1831_1832del
  • NM_001370262.2:c.1726_1727del
  • NM_001370263.2:c.1726_1727del
  • NM_001407142.1:c.1957_1958del
  • NM_001407143.1:c.1957_1958del
  • NM_001407144.1:c.1957_1958del
  • NM_001407145.1:c.1846_1847del
  • NM_001407146.1:c.1831_1832del
  • NM_001407147.1:c.1831_1832del
  • NM_001407148.1:c.1726_1727del
  • NM_001407149.1:c.1726_1727del
  • NM_001407150.1:c.1972_1973del
  • NM_001407151.1:c.1852_1853del
  • NM_001407152.1:c.1666_1667del
  • NM_130799.3:c.1831_1832del
  • NM_130800.3:c.1846_1847del
  • NM_130801.3:c.1846_1847del
  • NM_130802.3:c.1846_1847del
  • NM_130803.3:c.1846_1847del
  • NM_130804.3:c.1846_1847del
  • NP_000235.2:p.Ter616Asnfs
  • NP_000235.3:p.Ter616AsnextTer?
  • NP_001357180.2:p.Ter653AsnextTer?
  • NP_001357188.2:p.Ter611AsnextTer?
  • NP_001357189.2:p.Ter611AsnextTer?
  • NP_001357190.2:p.Ter611AsnextTer?
  • NP_001357191.2:p.Ter576AsnextTer?
  • NP_001357192.2:p.Ter576AsnextTer?
  • NP_001394071.1:p.Ter653AsnextTer?
  • NP_001394072.1:p.Ter653AsnextTer?
  • NP_001394073.1:p.Ter653AsnextTer?
  • NP_001394074.1:p.Ter616AsnextTer?
  • NP_001394075.1:p.Ter611AsnextTer?
  • NP_001394076.1:p.Ter611AsnextTer?
  • NP_001394077.1:p.Ter576AsnextTer?
  • NP_001394078.1:p.Ter576AsnextTer?
  • NP_001394079.1:p.Ter658AsnextTer?
  • NP_001394080.1:p.Ter618AsnextTer?
  • NP_001394081.1:p.Ter556AsnextTer?
  • NP_570711.1:p.Ter611Asnfs
  • NP_570711.2:p.Ter611AsnextTer?
  • NP_570712.2:p.Ter616AsnextTer?
  • NP_570713.2:p.Ter616AsnextTer?
  • NP_570714.2:p.Ter616AsnextTer?
  • NP_570715.2:p.Ter616AsnextTer?
  • NP_570716.2:p.Ter616AsnextTer?
  • LRG_509t1:c.1846_1847del
  • LRG_509t2:c.1831_1832del
  • LRG_509:g.11959_11960del
  • LRG_509p1:p.Ter616Asnfs
  • LRG_509p2:p.Ter611Asnfs
  • NC_000011.9:g.64571807_64571808del
  • NM_000244.3:c.1846_1847delTG
  • NM_130799.2:c.1831_1832delTG
  • NR_176284.1:n.2029_2030del
  • NR_176285.1:n.2041_2042del
  • NR_176286.1:n.2044_2045del
  • NR_176287.1:n.2302_2303del
Molecular consequence:
  • NM_000244.4:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370251.2:c.1957_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370259.2:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370260.2:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370261.2:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370262.2:c.1726_1727del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370263.2:c.1726_1727del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407142.1:c.1957_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407143.1:c.1957_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407144.1:c.1957_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407145.1:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407146.1:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407147.1:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407148.1:c.1726_1727del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407149.1:c.1726_1727del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407150.1:c.1972_1973del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407151.1:c.1852_1853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407152.1:c.1666_1667del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130799.3:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130800.3:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130801.3:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130802.3:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130803.3:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130804.3:c.1846_1847del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176284.1:n.2029_2030del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176285.1:n.2041_2042del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176286.1:n.2044_2045del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176287.1:n.2302_2303del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000244.4:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001370251.2:c.1957_1958del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001370259.2:c.1831_1832del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001370260.2:c.1831_1832del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001370261.2:c.1831_1832del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001370262.2:c.1726_1727del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001370263.2:c.1726_1727del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407142.1:c.1957_1958del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407143.1:c.1957_1958del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407144.1:c.1957_1958del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407145.1:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407146.1:c.1831_1832del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407147.1:c.1831_1832del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407148.1:c.1726_1727del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407149.1:c.1726_1727del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407150.1:c.1972_1973del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407151.1:c.1852_1853del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001407152.1:c.1666_1667del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_130799.3:c.1831_1832del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_130800.3:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_130801.3:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_130802.3:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_130803.3:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_130804.3:c.1846_1847del - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Multiple endocrine neoplasia, type 1 (MEN1)
Synonyms:
MEA I; MEN I; Endocrine adenomatosis multiple; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007540; MeSH: D018761; MedGen: C0025267; Orphanet: 652; OMIM: 131100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004414194Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 2, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004414194.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the MEN1 mRNA. It is expected to extend the length of the MEN1 protein by 66 additional amino acid residues.

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

Last Updated: Sep 29, 2024