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NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) AND Intellectual disability

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2020
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:
RCV001257673.5

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)]

NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)

Gene:
SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
Other names:
NM_001080420.1:c.3812_3824del
HGVS:
  • NC_000022.11:g.50721597_50721609del
  • NG_070230.1:g.57381_57393del
  • NM_001372044.2:c.3989_4001delMANE SELECT
  • NM_033517.1:c.3764_3776del
  • NP_001358973.1:p.Arg1330fs
  • NP_277052.1:p.Arg1255Leufs
  • NP_277052.1:p.Arg1255fs
  • NC_000022.10:g.51160025_51160037del
  • NM_033517.1:c.3764_3776del13
  • NM_033517.1:c.3764_3776delGGGCCCAGCCCCC
Protein change:
R1255fs
Links:
dbSNP: rs886041238
NCBI 1000 Genomes Browser:
rs886041238
Molecular consequence:
  • NM_001372044.2:c.3989_4001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033517.1:c.3764_3776del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434484Diagnostic Laboratory, Strasbourg University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 20, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not 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 Diagnostic Laboratory, Strasbourg University Hospital, SCV001434484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 20, 2024