NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2016
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:: RCV002313473.9

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu)]

NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu)

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.3760A>G (p.Lys1254Glu)

HGVS:

NC_000022.11:g.50721368A>G
NG_070230.1:g.57152A>G
NM_001372044.2:c.3760A>GMANE SELECT
NM_033517.1:c.3535A>G
NP_001358973.1:p.Lys1254Glu
NP_277052.1:p.Lys1179Glu
NC_000022.10:g.51159796A>G

Protein change:

K1179E

Links:

dbSNP: rs771528741

NCBI 1000 Genomes Browser:

rs771528741

Molecular consequence:

NM_001372044.2:c.3760A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033517.1:c.3535A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000848440	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 9, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000848440

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 9, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000848440.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.K1179E variant (also known as c.3535A>G), located in coding exon 21 of the SHANK3 gene, results from an A to G substitution at nucleotide position 3535. The lysine at codon 1179 is replaced by glutamic acid, an amino acid with similar properties. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Nov 3, 2024

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