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NM_015443.4(KANSL1):c.-90+404G>C AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 21, 2017
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:
RCV000187745.3

Allele description [Variation Report for NM_015443.4(KANSL1):c.-90+404G>C]

NM_015443.4(KANSL1):c.-90+404G>C

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.-90+404G>C
HGVS:
  • NC_000017.11:g.46192419C>G
  • NG_032784.1:g.37956G>C
  • NM_001193465.2:c.-89-20187G>C
  • NM_001193466.2:c.-90G>C
  • NM_001379198.1:c.-89-20187G>C
  • NM_015443.4:c.-90+404G>CMANE SELECT
  • NC_000017.10:g.44269785C>G
  • NM_001193466.1:c.-90G>C
Links:
dbSNP: rs796052591
NCBI 1000 Genomes Browser:
rs796052591
Molecular consequence:
  • NM_001193466.2:c.-90G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001193465.2:c.-89-20187G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379198.1:c.-89-20187G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015443.4:c.-90+404G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241342GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jul 21, 2017) 		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, SCV000241342.13

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022