NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg) AND Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

Clinical significance:Uncertain significance (Last evaluated: Apr 10, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001292801.1

Allele description [Variation Report for NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg)]

NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg)

Gene:
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg)
HGVS:
  • NC_000014.9:g.95124448G>C
  • NG_016311.1:g.37975C>G
  • NM_001195573.1:c.1124C>G
  • NM_001271282.3:c.1124C>G
  • NM_001291628.1:c.1124C>G
  • NM_030621.4:c.1124C>G
  • NM_177438.2:c.1124C>G
  • NP_001182502.1:p.Pro375Arg
  • NP_001258211.1:p.Pro375Arg
  • NP_001278557.1:p.Pro375Arg
  • NP_085124.2:p.Pro375Arg
  • NP_803187.1:p.Pro375Arg
  • LRG_492t1:c.1124C>G
  • LRG_492:g.37975C>G
  • LRG_492p1:p.Pro375Arg
  • NC_000014.8:g.95590785G>C
  • p.P375R
Protein change:
P375R
Links:
dbSNP: rs148758903
NCBI 1000 Genomes Browser:
rs148758903
Molecular consequence:
  • NM_001195573.1:c.1124C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271282.3:c.1124C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291628.1:c.1124C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030621.4:c.1124C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177438.2:c.1124C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)
Synonyms:
GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; MULTINODULAR GOITER, ADOLESCENT; SIMPLE GOITER; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007681; MedGen: C0302859; Orphanet: 276399; OMIM: 138800; Human Phenotype Ontology: HP:0009798

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001481455Baylor Genetics - CSER-TexasKidsCanSeqcriteria provided, single submitter
Uncertain significance
(Apr 10, 2020)
paternalclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481455.2

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 6, 2021

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