NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs) AND Phelan-McDermid syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 20, 2023
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:: RCV003223516.2

Allele description [Variation Report for NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)]

NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)

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.4341del (p.Thr1448fs)

HGVS:

NC_000022.11:g.50721949del
NG_070230.1:g.57733del
NM_001372044.2:c.4341del
NM_033517.1:c.4116delC
NP_001358973.1:p.Thr1448fs
NP_277052.1:p.Thr1373Glnfs
NC_000022.10:g.51160377del

Protein change:

T1448fs

Molecular consequence:

NM_001372044.2:c.4341del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033517.1:c.4116delC - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919006	Duke University Health System Sequencing Clinic, Duke University Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 20, 2023)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 32015180, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919006

Duke University Health System Sequencing Clinic, Duke University Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 20, 2023)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.

Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K.

Pediatrics. 2020 Feb;145(2). doi:pii: e20191490. 10.1542/peds.2019-1490. Review.

PubMed [citation]

PMID:: 32015180
PMCID:: PMC7802010

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 Duke University Health System Sequencing Clinic, Duke University Health System, SCV003919006.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 6, 2023

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