U.S. flag

An official website of the United States government

NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs) AND SIN3A-related intellectual disability syndrome due to a point mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2017
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:
RCV000496119.1

Allele description [Variation Report for NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)]

NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)

Gene:
SIN3A:SIN3 transcription regulator family member A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q24.2
Genomic location:
Preferred name:
NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)
HGVS:
  • NC_000015.10:g.75384341GT[2]
  • NG_052855.1:g.76439CA[2]
  • NM_001145357.2:c.3118_3119del
  • NM_001145358.2:c.3118_3119delMANE SELECT
  • NM_015477.3:c.3118_3119del
  • NP_001138829.1:p.Gln1040fs
  • NP_001138830.1:p.Gln1040fs
  • NP_056292.1:p.Gln1040fs
  • NC_000015.9:g.75676682GT[2]
  • NM_001145357.1:c.3118_3119del
Protein change:
Q1040fs
Links:
dbSNP: rs1135401768
NCBI 1000 Genomes Browser:
rs1135401768
Molecular consequence:
  • NM_001145357.2:c.3118_3119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145358.2:c.3118_3119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015477.3:c.3118_3119del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
RNA degradation by nonsense-mediated decay [Variation Ontology: 0347]
Observations:
1

Condition(s)

Name:
SIN3A-related intellectual disability syndrome due to a point mutation
Synonyms:
Witteveen-kolk syndrome; 15q24 Microdeletion Syndrome
Identifiers:
MONDO: MONDO:0044700; MedGen: C4310804; Orphanet: 94065; OMIM: 613406

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
SCV000586708Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000586708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

LOF variant in a patient with mild ID, behavioral anomalies (ADHD), obesity, height at 97th centile.

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

Last Updated: Apr 23, 2022