NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) AND Microcephaly with mental retardation and digital anomalies

Clinical significance:Uncertain significance (Last evaluated: Jan 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:
RCV001195854.1

Allele description [Variation Report for NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)]

NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)

Gene:
RBBP8:RB binding protein 8, endonuclease [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)
HGVS:
  • NC_000018.10:g.23022190G>A
  • NG_012121.1:g.93859G>A
  • NM_002894.3:c.2516G>AMANE SELECT
  • NM_203291.1:c.2516G>A
  • NM_203292.1:c.2419G>A
  • NP_002885.1:p.Arg839Gln
  • NP_976036.1:p.Arg839Gln
  • NP_976037.1:p.Asp807Asn
  • NC_000018.9:g.20602153G>A
  • NM_002894.2:c.2516G>A
Protein change:
D807N
Links:
dbSNP: rs140196819
NCBI 1000 Genomes Browser:
rs140196819
Molecular consequence:
  • NM_002894.3:c.2516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203291.1:c.2516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203292.1:c.2419G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Microcephaly with mental retardation and digital anomalies (JWDS)
Synonyms:
JAWAD SYNDROME; KELLY SYNDROME
Identifiers:
MONDO: MONDO:0009622; MedGen: C0796063; Orphanet: 313795; OMIM: 251255

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001366274Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Uncertain significance
(Jan 10, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001366274.2

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

Description

This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.

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

Last Updated: Dec 12, 2020

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