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NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=) AND Phelan-McDermid syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000625601.2

Allele description [Variation Report for NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=)]

NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=)

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.3852C>T (p.Leu1284=)
HGVS:
  • NC_000022.11:g.50721460C>T
  • NG_070230.1:g.57244C>T
  • NM_001372044.2:c.3852C>TMANE SELECT
  • NM_033517.1:c.3627C>T
  • NP_001358973.1:p.Leu1284=
  • NP_277052.1:p.Leu1209=
  • NC_000022.10:g.51159888C>T
Links:
dbSNP: rs753765611
NCBI 1000 Genomes Browser:
rs753765611
Molecular consequence:
  • NM_001372044.2:c.3852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033517.1:c.3627C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Phelan-McDermid syndrome
Synonyms:
TELOMERIC 22q13 MONOSOMY SYNDROME; 22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011652; MedGen: C1853490; Orphanet: 48652; OMIM: 606232

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746100Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significance
(Sep 18, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000746100.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024