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NM_015215.4(CAMTA1):c.882del (p.Tyr297fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 22, 2023
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:
RCV000406960.3

Allele description [Variation Report for NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)]

NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)

Gene:
CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.23
Genomic location:
Preferred name:
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)
HGVS:
  • NC_000001.11:g.7663429del
  • NG_053148.1:g.883106del
  • NM_001349608.2:c.792del
  • NM_001349609.2:c.882del
  • NM_001349610.2:c.882del
  • NM_001349612.2:c.792del
  • NM_015215.4:c.882delMANE SELECT
  • NP_001336537.1:p.Tyr267fs
  • NP_001336538.1:p.Tyr297fs
  • NP_001336539.1:p.Tyr297fs
  • NP_001336541.1:p.Tyr267fs
  • NP_056030.1:p.Tyr297fs
  • NC_000001.10:g.7723489del
  • NM_015215.3:c.882del
  • NM_015215.3:c.882delA
Protein change:
Y267fs
Links:
OMIM: 611501.0008; dbSNP: rs886041999
NCBI 1000 Genomes Browser:
rs886041999
Molecular consequence:
  • NM_001349608.2:c.792del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349609.2:c.882del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349610.2:c.882del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349612.2:c.792del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015215.4:c.882del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330825GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 22, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330825.8

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33131045, 33677721)

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

Last Updated: Aug 5, 2023