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NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 24, 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:
RCV002501885.1

Allele description [Variation Report for NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)]

NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)

Gene:
SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.3
Genomic location:
Preferred name:
NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)
HGVS:
  • NC_000018.10:g.44951402G>A
  • NG_027527.2:g.276230G>A
  • NM_001379141.1:c.2062G>A
  • NM_001379142.1:c.2062G>A
  • NM_015559.3:c.2062G>AMANE SELECT
  • NP_001366070.1:p.Val688Ile
  • NP_001366071.1:p.Val688Ile
  • NP_056374.2:p.Val688Ile
  • LRG_1150t1:c.2062G>A
  • LRG_1150:g.276230G>A
  • LRG_1150p1:p.Val688Ile
  • NC_000018.9:g.42531367G>A
  • NM_015559.2:c.2062G>A
Protein change:
V688I
Links:
dbSNP: rs370618204
NCBI 1000 Genomes Browser:
rs370618204
Molecular consequence:
  • NM_001379141.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379142.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015559.3:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Schinzel-Giedion syndrome (SGS)
Synonyms:
Schinzel-Giedion midface retraction syndrome
Identifiers:
MONDO: MONDO:0010010; MedGen: C0265227; Orphanet: 798; OMIM: 269150
Name:
Intellectual disability, autosomal dominant 29 (MRD29)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29
Identifiers:
MONDO: MONDO:0014482; MedGen: C4015141; Orphanet: 436151; OMIM: 616078

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002804443Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 24, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002804443.1

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

Last Updated: Oct 13, 2024