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NM_015443.4(KANSL1):c.500A>G (p.His167Arg) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 29, 2021
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:
RCV002514011.2

Allele description [Variation Report for NM_015443.4(KANSL1):c.500A>G (p.His167Arg)]

NM_015443.4(KANSL1):c.500A>G (p.His167Arg)

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.500A>G (p.His167Arg)
Other names:
p.H167R:CAT>CGT
HGVS:
  • NC_000017.11:g.46171644T>C
  • NG_032784.1:g.58731A>G
  • NM_001193465.2:c.500A>G
  • NM_001193466.2:c.500A>G
  • NM_001379198.1:c.500A>G
  • NM_015443.4:c.500A>GMANE SELECT
  • NP_001180394.1:p.His167Arg
  • NP_001180395.1:p.His167Arg
  • NP_001366127.1:p.His167Arg
  • NP_056258.1:p.His167Arg
  • NC_000017.10:g.44249010T>C
  • NM_001193466.1:c.500A>G
Protein change:
H167R
Links:
dbSNP: rs779594202
NCBI 1000 Genomes Browser:
rs779594202
Molecular consequence:
  • NM_001193465.2:c.500A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.500A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.500A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.500A>G - 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
SCV003617958Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 29, 2021) 		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, SCV003617958.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024