NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 5, 2024
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:
RCV001703678.2

Allele description [Variation Report for NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)]

NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)
HGVS:
  • NC_000017.11:g.46066555G>T
  • NG_032784.1:g.163820C>A
  • NM_001193465.2:c.1830C>A
  • NM_001193466.2:c.1830C>A
  • NM_001379198.1:c.1830C>A
  • NM_015443.4:c.1830C>AMANE SELECT
  • NP_001180394.1:p.Ile610=
  • NP_001180395.1:p.Ile610=
  • NP_001366127.1:p.Ile610=
  • NP_056258.1:p.Ile610=
  • NC_000017.10:g.44143921G>T
  • NM_001193466.1:c.1830C>A
Links:
dbSNP: rs150800846
NCBI 1000 Genomes Browser:
rs150800846
Molecular consequence:
  • NM_001193465.2:c.1830C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193466.2:c.1830C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379198.1:c.1830C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015443.4:c.1830C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000521667GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 5, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000521667.5

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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

Last Updated: Oct 8, 2024