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NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 15, 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:
RCV002312773.9

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=)]

NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=)

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.3559C>T (p.Leu1187=)
HGVS:
  • NC_000022.11:g.50721167C>T
  • NG_070230.1:g.56951C>T
  • NM_001372044.2:c.3559C>TMANE SELECT
  • NM_033517.1:c.3334C>T
  • NP_001358973.1:p.Leu1187=
  • NP_277052.1:p.Leu1112=
  • NC_000022.10:g.51159595C>T
Links:
dbSNP: rs376858991
NCBI 1000 Genomes Browser:
rs376858991
Molecular consequence:
  • NM_001372044.2:c.3559C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033517.1:c.3334C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000847222Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 15, 2016) 		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, SCV000847222.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024