U.S. flag

An official website of the United States government

NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 5, 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:
RCV000491766.3

Allele description [Variation Report for NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)]

NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)

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.1664G>A (p.Ser555Asn)
HGVS:
  • NC_000011.10:g.64804503C>T
  • NG_008929.1:g.11792G>A
  • NG_033040.1:g.3739G>A
  • NM_000244.4:c.1679G>A
  • NM_001370251.2:c.1790G>A
  • NM_001370259.2:c.1664G>AMANE SELECT
  • NM_001370260.2:c.1664G>A
  • NM_001370261.2:c.1664G>A
  • NM_001370262.2:c.1559G>A
  • NM_001370263.2:c.1559G>A
  • NM_130799.3:c.1664G>A
  • NM_130800.3:c.1679G>A
  • NM_130801.3:c.1679G>A
  • NM_130802.3:c.1679G>A
  • NM_130803.3:c.1679G>A
  • NM_130804.3:c.1679G>A
  • NP_000235.3:p.Ser560Asn
  • NP_001357180.2:p.Ser597Asn
  • NP_001357188.2:p.Ser555Asn
  • NP_001357189.2:p.Ser555Asn
  • NP_001357190.2:p.Ser555Asn
  • NP_001357191.2:p.Ser520Asn
  • NP_001357192.2:p.Ser520Asn
  • NP_570711.1:p.Ser555Asn
  • NP_570711.2:p.Ser555Asn
  • NP_570712.2:p.Ser560Asn
  • NP_570713.2:p.Ser560Asn
  • NP_570714.2:p.Ser560Asn
  • NP_570715.2:p.Ser560Asn
  • NP_570716.1:p.Ser560Asn
  • NP_570716.2:p.Ser560Asn
  • LRG_509t2:c.1664G>A
  • LRG_509:g.11792G>A
  • LRG_509p2:p.Ser555Asn
  • NC_000011.9:g.64571975C>T
  • NM_130799.2:c.1664G>A
  • NM_130804.2:c.1679G>A
Protein change:
S520N
Links:
dbSNP: rs863224527
NCBI 1000 Genomes Browser:
rs863224527
Molecular consequence:
  • NM_000244.4:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370251.2:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370259.2:c.1664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370260.2:c.1664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370261.2:c.1664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370262.2:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370263.2:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130799.3:c.1664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130800.3:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130801.3:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130802.3:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130803.3:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130804.3:c.1679G>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579740Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Oct 5, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.

Martín-Campos JM, Catasús L, Chico A, Mayoral C, Lagarda E, Gallart L, Mato E, Rodríguez-Espinosa J, Matías-Guiu X, De Leiva A, Blanco-Vaca F.

Diagn Mol Pathol. 1999 Dec;8(4):195-204.

PubMed [citation]
PMID:
10617276

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Béroud C, Calender A.

Hum Mutat. 2002 Jul;20(1):35-47.

PubMed [citation]
PMID:
12112656
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000579740.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.S555N variant (also known as c.1664G>A), located in coding exon 9 of the MEN1 gene, results from a G to A substitution at nucleotide position 1664. The serine at codon 555 is replaced by asparagine, an amino acid with highly similar properties. This alteration has been reported in numerous families with MEN1-related tumors, including parathyroid, pituitary and endocrine pancreatic tumors (Giraud S et al. Am. J. Hum. Genet. 1998 Aug; 63(2):455-67; Wautot V et al. Hum. Mutat. 2002 Jul; 20(1):35-47; Tso AW et al. Clin. Endocrinol. (Oxf) 2003 Jul; 59(1):129-35). In addition, cell-based functional assays have demonstrated reduced stability and expression of the menin protein compared with wild-type (Yaguchi H et al. Mol. Cell. Biol. 2004 Aug; 24(15):6569-80; Shimazu S et al. Cancer Sci. 2011 Nov; 102(11):2097-102). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 7, 2024