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NM_033064.5(ATCAY):c.464G>A (p.Arg155Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 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:
RCV003296477.2

Allele description [Variation Report for NM_033064.5(ATCAY):c.464G>A (p.Arg155Gln)]

NM_033064.5(ATCAY):c.464G>A (p.Arg155Gln)

Gene:
ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_033064.5(ATCAY):c.464G>A (p.Arg155Gln)
HGVS:
  • NC_000019.10:g.3907839G>A
  • NG_012638.1:g.32220G>A
  • NG_012638.2:g.32156G>A
  • NM_033064.5:c.464G>AMANE SELECT
  • NP_149053.1:p.Arg155Gln
  • NC_000019.9:g.3907837G>A
  • NM_033064.4:c.464G>A
Protein change:
R155Q
Molecular consequence:
  • NM_033064.5:c.464G>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
SCV003996624Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 22, 2023) 		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, SCV003996624.2

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

Description

The c.464G>A (p.R155Q) alteration is located in exon 5 (coding exon 4) of the ATCAY gene. This alteration results from a G to A substitution at nucleotide position 464, causing the arginine (R) at amino acid position 155 to be replaced by a glutamine (Q). 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 1, 2024