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NM_003011.4(SET):c.379T>C (p.Tyr127His) AND Intellectual disability, autosomal dominant 58

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2022
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:
RCV003140430.1

Allele description [Variation Report for NM_003011.4(SET):c.379T>C (p.Tyr127His)]

NM_003011.4(SET):c.379T>C (p.Tyr127His)

Gene:
SET:SET nuclear proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_003011.4(SET):c.379T>C (p.Tyr127His)
HGVS:
  • NC_000009.12:g.128692868T>C
  • NG_030356.1:g.14214T>C
  • NM_001122821.2:c.418T>C
  • NM_001248000.2:c.352T>C
  • NM_001248001.2:c.346T>C
  • NM_001374326.1:c.418T>C
  • NM_003011.4:c.379T>CMANE SELECT
  • NP_001116293.1:p.Tyr140His
  • NP_001234929.1:p.Tyr118His
  • NP_001234930.1:p.Tyr116His
  • NP_001361255.1:p.Tyr140His
  • NP_003002.2:p.Tyr127His
  • NC_000009.11:g.131455147T>C
Protein change:
Y116H
Molecular consequence:
  • NM_001122821.2:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001248000.2:c.352T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001248001.2:c.346T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374326.1:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003011.4:c.379T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability, autosomal dominant 58
Synonyms:
Mental retardation, autosomal dominant 58; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58
Identifiers:
MONDO: MONDO:0020847; MedGen: C4748195; OMIM: 618106

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807122Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderated, BP4 supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 11, 2023