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NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs) AND Macrocephaly-autism syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 18, 2018
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:
RCV000678976.2

Allele description [Variation Report for NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)]

NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)
HGVS:
  • NC_000010.11:g.87960958_87960959insGA
  • NG_007466.2:g.102520_102521insGA
  • NM_000314.8:c.866_867insGAMANE SELECT
  • NM_001304717.5:c.1385_1386insGA
  • NM_001304718.2:c.275_276insGA
  • NP_000305.3:p.Val290fs
  • NP_001291646.4:p.Val463fs
  • NP_001291647.1:p.Val93fs
  • LRG_311:g.102520_102521insGA
  • NC_000010.10:g.89720715_89720716insGA
Protein change:
V290fs
Links:
dbSNP: rs1564568303
NCBI 1000 Genomes Browser:
rs1564568303
Molecular consequence:
  • NM_000314.8:c.866_867insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1385_1386insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.275_276insGA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000805192Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 18, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV000805192.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024