NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) AND Schinzel-Giedion syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000990090.1

Allele description [Variation Report for NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His)]

NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His)

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.3962G>A (p.Arg1321His)
HGVS:
  • NC_000018.10:g.44953302G>A
  • NG_027527.2:g.278130G>A
  • NM_015559.3:c.3962G>AMANE SELECT
  • NP_056374.2:p.Arg1321His
  • LRG_1150t1:c.3962G>A
  • LRG_1150:g.278130G>A
  • LRG_1150p1:p.Arg1321His
  • NC_000018.9:g.42533267G>A
  • NM_015559.2:c.3962G>A
Protein change:
R1321H
Links:
dbSNP: rs149638556
NCBI 1000 Genomes Browser:
rs149638556
Molecular consequence:
  • NM_015559.3:c.3962G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001140883Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140883.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024