U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.1679_1680insT (p.Tyr561fs) AND Diffuse midline glioma, H3 K27-altered

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 4, 2022
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:
RCV003313829.2

Allele description [Variation Report for NM_004360.5(CDH1):c.1679_1680insT (p.Tyr561fs)]

NM_004360.5(CDH1):c.1679_1680insT (p.Tyr561fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.1679_1680insT (p.Tyr561fs)
HGVS:
  • NC_000016.10:g.68819393_68819394insT
  • NG_008021.1:g.87102_87103insT
  • NM_001317184.2:c.1496_1497insT
  • NM_001317185.2:c.131_132insT
  • NM_001317186.2:c.-254-2608_-254-2607insT
  • NM_004360.5:c.1679_1680insTMANE SELECT
  • NP_001304113.1:p.Tyr500fs
  • NP_001304114.1:p.Tyr45fs
  • NP_004351.1:p.Tyr561Valfs
  • NP_004351.1:p.Tyr561fs
  • LRG_301t1:c.1679_1680insT
  • LRG_301:g.87102_87103insT
  • LRG_301p1:p.Tyr561Valfs
  • NC_000016.9:g.68853296_68853297insT
  • NM_004360.3:c.1679_1680insT
Protein change:
Y45fs
Molecular consequence:
  • NM_001317184.2:c.1496_1497insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317185.2:c.131_132insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.1679_1680insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317186.2:c.-254-2608_-254-2607insT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Diffuse midline glioma, H3 K27-altered
Identifiers:
MedGen: C5669877

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004012924Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 4, 2022) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedresearch

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 Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital, SCV004012924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024