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NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) AND Koolen-de Vries syndrome

Clinical significance:Benign (Last evaluated: Dec 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001514688.4

Allele description [Variation Report for NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)]

NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)

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.1491A>G (p.Pro497=)
HGVS:
  • NC_000017.11:g.46082483T>C
  • NG_032784.1:g.147892A>G
  • NM_001193465.2:c.1491A>G
  • NM_001193466.2:c.1491A>G
  • NM_001379198.1:c.1491A>G
  • NM_015443.4:c.1491A>GMANE SELECT
  • NP_001180394.1:p.Pro497=
  • NP_001180395.1:p.Pro497=
  • NP_001366127.1:p.Pro497=
  • NP_056258.1:p.Pro497=
  • NC_000017.10:g.44159849T>C
  • NM_001193466.1:c.1491A>G
Links:
dbSNP: rs17576165
NCBI 1000 Genomes Browser:
rs17576165
Molecular consequence:
  • NM_001193465.2:c.1491A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193466.2:c.1491A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379198.1:c.1491A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015443.4:c.1491A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Koolen-de Vries syndrome (KDVS)
Synonyms:
KANSL1-Related Intellectual Disability Syndrome
Identifiers:
MONDO: MONDO:0012496; MedGen: C1864871; Orphanet: 96169; OMIM: 610443

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001722592Invitaecriteria provided, single submitter
Benign
(Dec 8, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001722592.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022