NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 18, 2018
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:: RCV001266197.2

Allele description [Variation Report for NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)]

NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)

Gene:

SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)

HGVS:

NC_000022.11:g.50722235C>T
NG_070230.1:g.58019C>T
NM_001372044.2:c.4627C>TMANE SELECT
NM_033517.1:c.4402C>T
NP_001358973.1:p.Gln1543Ter
NP_277052.1:p.Gln1468Ter
NC_000022.10:g.51160663C>T

Protein change:

Q1468*

Links:

dbSNP: rs1064795759

NCBI 1000 Genomes Browser:

rs1064795759

Molecular consequence:

NM_001372044.2:c.4627C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_033517.1:c.4402C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444369	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jan 18, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444369

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jan 18, 2018)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic/Mexican	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ, Dueker ND, Van Booven D, Rantus JA, Jaworski JM, Slifer SH, Schmidt MA, Hulme W, Konidari I, Whitehead PL, Cuccaro ML, Martin ER, Haines JL, Gilbert JR, Hussman JP, Pericak-Vance MA.

Mol Autism. 2015;6:43. doi: 10.1186/s13229-015-0034-z.

PubMed [citation]

PMID:: 26185613
PMCID:: PMC4504419

Details of each submission

From Ambry Genetics, SCV001444369.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic/Mexican	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 21, 2023

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