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NM_020975.6(RET):c.452A>T (p.Asn151Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 2021
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:
RCV002341583.1

Allele description [Variation Report for NM_020975.6(RET):c.452A>T (p.Asn151Ile)]

NM_020975.6(RET):c.452A>T (p.Asn151Ile)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
HGVS:
  • NC_000010.11:g.43102456A>T
  • NG_007489.1:g.30388A>T
  • NM_000323.2:c.452A>T
  • NM_001406743.1:c.452A>T
  • NM_001406744.1:c.452A>T
  • NM_001406759.1:c.452A>T
  • NM_001406760.1:c.452A>T
  • NM_001406763.1:c.452A>T
  • NM_001406765.1:c.452A>T
  • NM_001406769.1:c.452A>T
  • NM_001406771.1:c.452A>T
  • NM_001406772.1:c.452A>T
  • NM_001406773.1:c.452A>T
  • NM_001406779.1:c.452A>T
  • NM_001406780.1:c.452A>T
  • NM_001406781.1:c.452A>T
  • NM_001406782.1:c.452A>T
  • NM_001406785.1:c.452A>T
  • NM_001406787.1:c.452A>T
  • NM_020629.2:c.452A>T
  • NM_020630.7:c.452A>T
  • NM_020975.6:c.452A>TMANE SELECT
  • NP_000314.1:p.Asn151Ile
  • NP_001393672.1:p.Asn151Ile
  • NP_001393673.1:p.Asn151Ile
  • NP_001393688.1:p.Asn151Ile
  • NP_001393689.1:p.Asn151Ile
  • NP_001393692.1:p.Asn151Ile
  • NP_001393694.1:p.Asn151Ile
  • NP_001393698.1:p.Asn151Ile
  • NP_001393700.1:p.Asn151Ile
  • NP_001393701.1:p.Asn151Ile
  • NP_001393702.1:p.Asn151Ile
  • NP_001393708.1:p.Asn151Ile
  • NP_001393709.1:p.Asn151Ile
  • NP_001393710.1:p.Asn151Ile
  • NP_001393711.1:p.Asn151Ile
  • NP_001393714.1:p.Asn151Ile
  • NP_001393716.1:p.Asn151Ile
  • NP_065680.1:p.Asn151Ile
  • NP_065681.1:p.Asn151Ile
  • NP_065681.1:p.Asn151Ile
  • NP_065681.1:p.Asn151Ile
  • NP_066124.1:p.Asn151Ile
  • NP_066124.1:p.Asn151Ile
  • LRG_518t1:c.452A>T
  • LRG_518t2:c.452A>T
  • LRG_518:g.30388A>T
  • LRG_518p1:p.Asn151Ile
  • LRG_518p2:p.Asn151Ile
  • NC_000010.10:g.43597904A>T
  • NM_020630.4:c.452A>T
  • NM_020630.6:c.452A>T
  • NM_020975.4:c.452A>T
Protein change:
N151I
Links:
dbSNP: rs150261092
NCBI 1000 Genomes Browser:
rs150261092
Molecular consequence:
  • NM_000323.2:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.452A>T - missense variant - [Sequence Ontology: SO:0001583]
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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002635211Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Aug 11, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002635211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.N151I variant (also known as c.452A>T), located in coding exon 3 of the RET gene, results from an A to T substitution at nucleotide position 452. The asparagine at codon 151 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024