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NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 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:
RCV003308243.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)]

NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)
HGVS:
  • NC_000011.10:g.64809913C>A
  • NG_008929.1:g.6382G>T
  • NM_000244.4:c.197G>T
  • NM_001370251.2:c.197G>T
  • NM_001370259.2:c.197G>TMANE SELECT
  • NM_001370260.2:c.197G>T
  • NM_001370261.2:c.197G>T
  • NM_001370262.2:c.197G>T
  • NM_001370263.2:c.197G>T
  • NM_001407142.1:c.197G>T
  • NM_001407143.1:c.197G>T
  • NM_001407144.1:c.197G>T
  • NM_001407145.1:c.197G>T
  • NM_001407146.1:c.197G>T
  • NM_001407147.1:c.197G>T
  • NM_001407148.1:c.197G>T
  • NM_001407149.1:c.197G>T
  • NM_001407150.1:c.197G>T
  • NM_001407151.1:c.197G>T
  • NM_001407152.1:c.197G>T
  • NM_130799.3:c.197G>T
  • NM_130800.3:c.197G>T
  • NM_130801.3:c.197G>T
  • NM_130802.3:c.197G>T
  • NM_130803.3:c.197G>T
  • NM_130804.3:c.197G>T
  • NP_000235.2:p.Ser66Ile
  • NP_000235.3:p.Ser66Ile
  • NP_001357180.2:p.Ser66Ile
  • NP_001357188.2:p.Ser66Ile
  • NP_001357189.2:p.Ser66Ile
  • NP_001357190.2:p.Ser66Ile
  • NP_001357191.2:p.Ser66Ile
  • NP_001357192.2:p.Ser66Ile
  • NP_001394071.1:p.Ser66Ile
  • NP_001394072.1:p.Ser66Ile
  • NP_001394073.1:p.Ser66Ile
  • NP_001394074.1:p.Ser66Ile
  • NP_001394075.1:p.Ser66Ile
  • NP_001394076.1:p.Ser66Ile
  • NP_001394077.1:p.Ser66Ile
  • NP_001394078.1:p.Ser66Ile
  • NP_001394079.1:p.Ser66Ile
  • NP_001394080.1:p.Ser66Ile
  • NP_001394081.1:p.Ser66Ile
  • NP_570711.1:p.Ser66Ile
  • NP_570711.2:p.Ser66Ile
  • NP_570712.2:p.Ser66Ile
  • NP_570713.2:p.Ser66Ile
  • NP_570714.2:p.Ser66Ile
  • NP_570715.2:p.Ser66Ile
  • NP_570716.2:p.Ser66Ile
  • LRG_509t1:c.197G>T
  • LRG_509t2:c.197G>T
  • LRG_509:g.6382G>T
  • LRG_509p1:p.Ser66Ile
  • LRG_509p2:p.Ser66Ile
  • NC_000011.9:g.64577385C>A
  • NM_000244.3:c.197G>T
  • NM_130799.2:c.197G>T
  • NR_176284.1:n.246G>T
  • NR_176285.1:n.258G>T
  • NR_176286.1:n.246G>T
  • NR_176287.1:n.504G>T
Protein change:
S66I
Molecular consequence:
  • NM_000244.4:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370251.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370259.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370260.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370261.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370262.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370263.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407142.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407143.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407144.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407145.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407146.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407147.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407148.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407149.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407150.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407151.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407152.1:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130799.3:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130800.3:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130801.3:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130802.3:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130803.3:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130804.3:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004001511Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 13, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Martínez de LaPiscina I, Portillo Najera N, Rica I, Gaztambide S, Webb SM, Santos A, Moure MD, Paja Fano M, Hernandez MI, Chueca-Guindelain MJ, Hernández-Ramírez LC, Soto A, Valdés N, Castaño L.

Eur J Endocrinol. 2021 Aug 27;185(4):485-496. doi: 10.1530/EJE-21-0075.

PubMed [citation]
PMID:
34313605

Details of each submission

From Ambry Genetics, SCV004001511.2

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

Description

The p.S66I variant (also known as c.197G>T), located in coding exon 1 of the MEN1 gene, results from a G to T substitution at nucleotide position 197. The serine at codon 66 is replaced by isoleucine, an amino acid with dissimilar properties. This alteration was detected in the germline of an individual with isolated pituitary prolactinoma. (Martínez de LaPiscina I et al. Eur J Endocrinol, 2021 Aug;185:485-496). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024