NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu) AND Mental retardation, autosomal dominant 23

Clinical significance:Likely pathogenic (Last evaluated: Sep 27, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000824826.2

Allele description [Variation Report for NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu)]

NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu)

Gene:
SETD5:SET domain containing 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu)
HGVS:
  • NC_000003.12:g.9442156A>G
  • NG_034132.1:g.49457A>G
  • NM_001080517.3:c.988A>GMANE SELECT
  • NM_001292043.2:c.694A>G
  • NM_001349451.2:c.694A>G
  • NP_001073986.1:p.Lys330Glu
  • NP_001278972.1:p.Lys232Glu
  • NP_001336380.1:p.Lys232Glu
  • NC_000003.11:g.9483840A>G
  • NM_001080517.1:c.988A>G
Protein change:
K232E
Links:
dbSNP: rs1575430613
NCBI 1000 Genomes Browser:
rs1575430613
Molecular consequence:
  • NM_001080517.3:c.988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292043.2:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349451.2:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, autosomal dominant 23 (MRD23)
Identifiers:
MONDO: MONDO:0014336; MedGen: C3810406; Orphanet: 404440; OMIM: 615761

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000965715Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenic
(Jan 1, 2015)
de novoclinical testing

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

SCV001521080Baylor Geneticscriteria provided, single submitter
Likely pathogenic
(Sep 27, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001521080.1

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

Description

This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Mar 28, 2021

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