U.S. flag

An official website of the United States government

NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 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:
RCV004034745.1

Allele description [Variation Report for NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)]

NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)

Gene:
CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)
HGVS:
  • NC_000023.11:g.41531117C>T
  • NG_016754.2:g.396918G>A
  • NM_001126054.3:c.2326G>A
  • NM_001126055.3:c.2323G>A
  • NM_001367721.1:c.2410G>AMANE SELECT
  • NM_001410745.1:c.2392G>A
  • NM_003688.4:c.2395G>A
  • NP_001119526.1:p.Glu776Lys
  • NP_001119526.1:p.Glu776Lys
  • NP_001119527.1:p.Glu775Lys
  • NP_001119527.1:p.Glu775Lys
  • NP_001354650.1:p.Glu804Lys
  • NP_001397674.1:p.Glu798Lys
  • NP_003679.2:p.Glu799Lys
  • NP_003679.2:p.Glu799Lys
  • NC_000023.10:g.41390370C>T
  • NM_001126054.2:c.2326G>A
  • NM_001126055.2:c.2323G>A
  • NM_003688.3:c.2395G>A
Protein change:
E775K
Links:
dbSNP: rs751235198
NCBI 1000 Genomes Browser:
rs751235198
Molecular consequence:
  • NM_001126054.3:c.2326G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126055.3:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367721.1:c.2410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410745.1:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003688.4:c.2395G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004919416Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 10, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004919416.1

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

Description

The c.2395G>A (p.E799K) alteration is located in exon 25 (coding exon 25) of the CASK gene. This alteration results from a G to A substitution at nucleotide position 2395, causing the glutamic acid (E) at amino acid position 799 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024