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NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs) AND Phelan-McDermid syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 29, 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:
RCV002465391.3

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)]

NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)

Gene:
SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
HGVS:
  • NC_000022.11:g.50721560dup
  • NG_070230.1:g.57344dup
  • NM_001372044.2:c.3952dup
  • NM_033517.1:c.3727dup
  • NP_001358973.1:p.Gln1318fs
  • NP_277052.1:p.Gln1243Profs
  • NC_000022.10:g.51159988dup
  • NM_033517.1:c.3727dup
Protein change:
Q1318fs
Molecular consequence:
  • NM_001372044.2:c.3952dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033517.1:c.3727dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Phelan-McDermid syndrome
Synonyms:
TELOMERIC 22q13 MONOSOMY SYNDROME; 22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011652; MedGen: C1853490; Orphanet: 48652; OMIM: 606232

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002760058Laboratory of Medical Genetics, University of Torino - NeuroWES
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 29, 2022)
germlineresearch

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

SCV003927801Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
no assertion criteria provided
Likely pathogenic
(Apr 1, 2023)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, research

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 Laboratory of Medical Genetics, University of Torino - NeuroWES, SCV002760058.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003927801.1

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

Last Updated: Sep 16, 2023