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NM_020975.6(RET):c.1187C>T (p.Ser396Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 23, 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:
RCV000574133.6

Allele description [Variation Report for NM_020975.6(RET):c.1187C>T (p.Ser396Leu)]

NM_020975.6(RET):c.1187C>T (p.Ser396Leu)

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.1187C>T (p.Ser396Leu)
HGVS:
  • NC_000010.11:g.43109154C>T
  • NG_007489.1:g.37086C>T
  • NM_000323.2:c.1187C>T
  • NM_001355216.2:c.425C>T
  • NM_001406743.1:c.1187C>T
  • NM_001406744.1:c.1187C>T
  • NM_001406759.1:c.1187C>T
  • NM_001406760.1:c.1187C>T
  • NM_001406761.1:c.1058C>T
  • NM_001406762.1:c.1058C>T
  • NM_001406763.1:c.1187C>T
  • NM_001406764.1:c.1058C>T
  • NM_001406765.1:c.1187C>T
  • NM_001406766.1:c.899C>T
  • NM_001406767.1:c.899C>T
  • NM_001406768.1:c.1058C>T
  • NM_001406770.1:c.899C>T
  • NM_001406771.1:c.749C>T
  • NM_001406773.1:c.749C>T
  • NM_001406775.1:c.461C>T
  • NM_001406776.1:c.461C>T
  • NM_001406777.1:c.461C>T
  • NM_001406778.1:c.461C>T
  • NM_001406784.1:c.197C>T
  • NM_020629.2:c.1187C>T
  • NM_020630.5:c.1187C>T
  • NM_020630.7:c.1187C>T
  • NM_020975.6:c.1187C>TMANE SELECT
  • NP_000314.1:p.Ser396Leu
  • NP_001342145.1:p.Ser142Leu
  • NP_001342145.1:p.Ser142Leu
  • NP_001393672.1:p.Ser396Leu
  • NP_001393673.1:p.Ser396Leu
  • NP_001393688.1:p.Ser396Leu
  • NP_001393689.1:p.Ser396Leu
  • NP_001393690.1:p.Ser353Leu
  • NP_001393691.1:p.Ser353Leu
  • NP_001393692.1:p.Ser396Leu
  • NP_001393693.1:p.Ser353Leu
  • NP_001393694.1:p.Ser396Leu
  • NP_001393695.1:p.Ser300Leu
  • NP_001393696.1:p.Ser300Leu
  • NP_001393697.1:p.Ser353Leu
  • NP_001393699.1:p.Ser300Leu
  • NP_001393700.1:p.Ser250Leu
  • NP_001393702.1:p.Ser250Leu
  • NP_001393704.1:p.Ser154Leu
  • NP_001393705.1:p.Ser154Leu
  • NP_001393706.1:p.Ser154Leu
  • NP_001393707.1:p.Ser154Leu
  • NP_001393713.1:p.Ser66Leu
  • NP_065680.1:p.Ser396Leu
  • NP_065681.1:p.Ser396Leu
  • NP_065681.1:p.Ser396Leu
  • NP_065681.1:p.Ser396Leu
  • NP_066124.1:p.Ser396Leu
  • NP_066124.1:p.Ser396Leu
  • LRG_518t1:c.1187C>T
  • LRG_518t2:c.1187C>T
  • LRG_518:g.37086C>T
  • LRG_518p1:p.Ser396Leu
  • LRG_518p2:p.Ser396Leu
  • NC_000010.10:g.43604602C>T
  • NM_001355216.1:c.425C>T
  • NM_020630.4:c.1187C>T
  • NM_020630.6:c.1187C>T
  • NM_020975.4:c.1187C>T
  • NM_020975.6:c.1187C>T
Protein change:
S142L
Links:
dbSNP: rs781646869
NCBI 1000 Genomes Browser:
rs781646869
Molecular consequence:
  • NM_000323.2:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.425C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.1187C>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
SCV000674874Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Aug 23, 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

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Carter TC, Kay DM, Browne ML, Liu A, Romitti PA, Kuehn D, Conley MR, Caggana M, Druschel CM, Brody LC, Mills JL.

J Hum Genet. 2012 Aug;57(8):485-93. doi: 10.1038/jhg.2012.54. Epub 2012 May 31.

PubMed [citation]
PMID:
22648184
PMCID:
PMC3503526

Details of each submission

From Ambry Genetics, SCV000674874.6

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

Description

The p.S396L variant (also known as c.1187C>T), located in coding exon 6 of the RET gene, results from a C to T substitution at nucleotide position 1187. The serine at codon 396 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in an individual with Hirschsprung disease (Carter TC et al. J. Hum. Genet., 2012 Aug;57:485-93). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Mar 5, 2024