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NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2016
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:
RCV000442390.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp)]

NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp)

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.619A>G (p.Asn207Asp)
HGVS:
  • NC_000017.11:g.46171525T>C
  • NG_032784.1:g.58850A>G
  • NM_001193465.2:c.619A>G
  • NM_001193466.2:c.619A>G
  • NM_001379198.1:c.619A>G
  • NM_015443.4:c.619A>GMANE SELECT
  • NP_001180394.1:p.Asn207Asp
  • NP_001180395.1:p.Asn207Asp
  • NP_001366127.1:p.Asn207Asp
  • NP_056258.1:p.Asn207Asp
  • NC_000017.10:g.44248891T>C
  • NM_001193466.1:c.619A>G
Protein change:
N207D
Links:
dbSNP: rs372601814
NCBI 1000 Genomes Browser:
rs372601814
Molecular consequence:
  • NM_001193465.2:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000526885GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Apr 27, 2016) 		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, SCV000526885.4

#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: Sep 29, 2024