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NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) AND Macrocephaly-autism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2015
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:
RCV000185586.3

Allele description [Variation Report for NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)]

NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)
Other names:
NM_000314.6(PTEN):c.545T>C
HGVS:
  • NC_000010.11:g.87952170T>C
  • NG_007466.2:g.93732T>C
  • NM_000314.8:c.545T>CMANE SELECT
  • NM_001304717.5:c.1064T>C
  • NM_001304718.2:c.-47T>C
  • NP_000305.3:p.Leu182Ser
  • NP_001291646.4:p.Leu355Ser
  • LRG_311t1:c.545T>C
  • LRG_311:g.93732T>C
  • NC_000010.10:g.89711927T>C
  • NM_000314.1:c.545T>C
  • NM_000314.4:c.545T>C
Protein change:
L182S
Links:
dbSNP: rs794729664
NCBI 1000 Genomes Browser:
rs794729664
Molecular consequence:
  • NM_001304718.2:c.-47T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Macrocephaly-autism syndrome
Synonyms:
Macrocephaly/autism syndrome
Identifiers:
MONDO: MONDO:0011537; MedGen: C1854416; Orphanet: 210548; OMIM: 605309

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000212235Institute of Human Genetics, FAU Erlangen-Nuremberg - ARID_RAJ
no assertion criteria provided

(clinical testing)		Pathogenic
(Mar 1, 2015) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes41not providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, FAU Erlangen-Nuremberg - ARID_RAJ, SCV000212235.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not provided1not provided

Last Updated: Jun 23, 2024