NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) AND Koolen-de Vries syndrome

Clinical significance:Benign/Likely benign (Last evaluated: Sep 19, 2022)
Review status:2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000866421.8

Allele description [Variation Report for NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)]

NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)

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.3306G>A (p.Pro1102=)

HGVS:

NC_000017.11:g.46031488C>T
NG_032784.1:g.198887G>A
NM_001193465.2:c.3303G>A
NM_001193466.2:c.3306G>A
NM_001379198.1:c.3306G>A
NM_015443.4:c.3306G>AMANE SELECT
NP_001180394.1:p.Pro1101=
NP_001180395.1:p.Pro1102=
NP_001366127.1:p.Pro1102=
NP_056258.1:p.Pro1102=
NC_000017.10:g.44108854C>T
NM_001193466.1:c.3306G>A

Links:

dbSNP: rs143746890

NCBI 1000 Genomes Browser:

rs143746890

Molecular consequence:

NM_001193465.2:c.3303G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001193466.2:c.3306G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001379198.1:c.3306G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_015443.4:c.3306G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001007511	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Benign (Sep 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002810151	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter ACMG Guidelines, 2015	Likely benign (Aug 6, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001007511

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Benign
(Sep 19, 2022)

germline

clinical testing

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

SCV002810151

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

ACMG Guidelines, 2015

Likely benign
(Aug 6, 2021)

unknown

clinical testing

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Invitae, SCV001007511.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002810151.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 7, 2023

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