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NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2023
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:
RCV003269082.2

Allele description [Variation Report for NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)]

NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)

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.3230A>T (p.Glu1077Val)
HGVS:
  • NC_000017.11:g.46031564T>A
  • NG_032784.1:g.198811A>T
  • NM_001193465.2:c.3227A>T
  • NM_001193466.2:c.3230A>T
  • NM_001379198.1:c.3230A>T
  • NM_015443.4:c.3230A>TMANE SELECT
  • NP_001180394.1:p.Glu1076Val
  • NP_001180395.1:p.Glu1077Val
  • NP_001366127.1:p.Glu1077Val
  • NP_056258.1:p.Glu1077Val
  • NC_000017.10:g.44108930T>A
  • NM_001193466.1:c.3230A>T
Protein change:
E1076V
Links:
dbSNP: rs760256746
NCBI 1000 Genomes Browser:
rs760256746
Molecular consequence:
  • NM_001193465.2:c.3227A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.3230A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.3230A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.3230A>T - 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
SCV003971575Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 2023) 		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, SCV003971575.2

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

Description

The c.3230A>T (p.E1077V) alteration is located in exon 15 (coding exon 14) of the KANSL1 gene. This alteration results from a A to T substitution at nucleotide position 3230, causing the glutamic acid (E) at amino acid position 1077 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024