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NM_001372044.2(SHANK3):c.4148C>T (p.Pro1383Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2024
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:
RCV004450895.1

Allele description [Variation Report for NM_001372044.2(SHANK3):c.4148C>T (p.Pro1383Leu)]

NM_001372044.2(SHANK3):c.4148C>T (p.Pro1383Leu)

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.4148C>T (p.Pro1383Leu)
HGVS:
  • NC_000022.11:g.50721756C>T
  • NG_070230.1:g.57540C>T
  • NM_001372044.2:c.4148C>TMANE SELECT
  • NM_033517.1:c.3923C>T
  • NP_001358973.1:p.Pro1383Leu
  • NP_277052.1:p.Pro1308Leu
  • NC_000022.10:g.51160184C>T
Protein change:
P1308L
Molecular consequence:
  • NM_001372044.2:c.4148C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033517.1:c.3923C>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
SCV004946652Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 16, 2024) 		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, SCV004946652.1

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

Description

The c.3923C>T (p.P1308L) alteration is located in exon 21 (coding exon 21) of the SHANK3 gene. This alteration results from a C to T substitution at nucleotide position 3923, causing the proline (P) at amino acid position 1308 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024