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NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 1, 2019
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:
RCV001703585.9

Allele description [Variation Report for NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser)]

NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser)

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.610G>A (p.Gly204Ser)
HGVS:
  • NC_000017.11:g.46171534C>T
  • NG_032784.1:g.58841G>A
  • NM_001193465.2:c.610G>A
  • NM_001193466.2:c.610G>A
  • NM_001379198.1:c.610G>A
  • NM_015443.4:c.610G>AMANE SELECT
  • NP_001180394.1:p.Gly204Ser
  • NP_001180395.1:p.Gly204Ser
  • NP_001366127.1:p.Gly204Ser
  • NP_056258.1:p.Gly204Ser
  • NC_000017.10:g.44248900C>T
  • NM_001193466.1:c.610G>A
Protein change:
G204S
Links:
dbSNP: rs1057520810
NCBI 1000 Genomes Browser:
rs1057520810
Molecular consequence:
  • NM_001193465.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000518112GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Aug 1, 2019) 		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, SCV000518112.4

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

Description

Not observed in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 3, 2024