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NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 20, 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:
RCV002408679.9

Allele description [Variation Report for NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)]

NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)

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.1922G>A (p.Arg641Lys)
HGVS:
  • NC_000023.11:g.41553836C>T
  • NG_016754.2:g.374199G>A
  • NM_001126054.3:c.1853G>A
  • NM_001126055.3:c.1835G>A
  • NM_001367721.1:c.1922G>AMANE SELECT
  • NM_001410745.1:c.1904G>A
  • NM_003688.4:c.1922G>A
  • NP_001119526.1:p.Arg618Lys
  • NP_001119526.1:p.Arg618Lys
  • NP_001119527.1:p.Arg612Lys
  • NP_001119527.1:p.Arg612Lys
  • NP_001354650.1:p.Arg641Lys
  • NP_001397674.1:p.Arg635Lys
  • NP_003679.2:p.Arg641Lys
  • NP_003679.2:p.Arg641Lys
  • NC_000023.10:g.41413089C>T
  • NM_001126054.2:c.1853G>A
  • NM_001126055.2:c.1835G>A
  • NM_003688.3:c.1922G>A
Protein change:
R612K
Links:
dbSNP: rs76106850
NCBI 1000 Genomes Browser:
rs76106850
Molecular consequence:
  • NM_001126054.3:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126055.3:c.1835G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367721.1:c.1922G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410745.1:c.1904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003688.4:c.1922G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002720660Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Mar 20, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002720660.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024