NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs) AND SHANK3-related disorder

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000509224.1

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs)]

NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs)

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.3649_3650del (p.Leu1217fs)

HGVS:

NC_000022.11:g.50721257_50721258del
NG_070230.1:g.57041_57042del
NM_001372044.2:c.3649_3650delMANE SELECT
NP_001358973.1:p.Leu1217fs
NC_000022.10:g.51159685_51159686del
NC_000022.10:g.51159685_51159686delCT
NM_033517.1:c.3424_3425delCT

Protein change:

L1217fs

Links:

dbSNP: rs1555910143

NCBI 1000 Genomes Browser:

rs1555910143

Molecular consequence:

NM_001372044.2:c.3649_3650del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: SHANK3-related disorder
Synonyms:: SHANK3-related condition
Identifiers:

Recent activity

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Mus musculus splicing regulatory glutamine/lysine-rich protein 1interacting prot...
Mus musculus splicing regulatory glutamine/lysine-rich protein 1interacting protein 1 (Srek1ip1), transcript variant 1, mRNA
gi|1001184322|ref|NM_026075.3|

Nucleotide
PIK3CD [Pan paniscus]
PIK3CD [Pan paniscus]
Gene ID:100989732

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000606928	GenomeConnect, ClinGen	no classification provided	not provided	de novo	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000606928

GenomeConnect, ClinGen

no classification provided

not provided

de novo

phenotyping only

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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	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000606928.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Sep 1, 2024

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