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NM_001372044.2(SHANK3):c.3343C>T (p.Pro1115Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 2017
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:
RCV002315265.9

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3343C>T (p.Pro1115Ser)]

NM_001372044.2(SHANK3):c.3343C>T (p.Pro1115Ser)

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.3343C>T (p.Pro1115Ser)
HGVS:
  • NC_000022.11:g.50720951C>T
  • NG_070230.1:g.56735C>T
  • NM_001372044.2:c.3343C>TMANE SELECT
  • NM_033517.1:c.3118C>T
  • NP_001358973.1:p.Pro1115Ser
  • NP_277052.1:p.Pro1040Ser
  • NC_000022.10:g.51159379C>T
Protein change:
P1040S
Links:
dbSNP: rs762947232
NCBI 1000 Genomes Browser:
rs762947232
Molecular consequence:
  • NM_001372044.2:c.3343C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033517.1:c.3118C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000848967Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 11, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848967.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.P1040S variant (also known as c.3118C>T), located in coding exon 21 of the SHANK3 gene, results from a C to T substitution at nucleotide position 3118. The proline at codon 1040 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024