NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs) AND Intellectual disability, autosomal dominant 51

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 6, 2020
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:: RCV003138861.3

Allele description [Variation Report for NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)]

NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)

Gene:

KMT5B:lysine methyltransferase 5B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)

HGVS:

NC_000011.10:g.68157875_68157878del
NG_052873.1:g.60898_60901del
NM_001300907.1:c.1955_1958del
NM_001300908.2:c.1751_1754del
NM_001369426.1:c.2471_2474del
NM_001369428.1:c.1955_1958del
NM_001369429.1:c.1955_1958del
NM_001369430.1:c.1955_1958del
NM_001369431.1:c.1955_1958del
NM_001369432.1:c.1955_1958del
NM_001369433.1:c.1955_1958del
NM_017635.5:c.2471_2474delMANE SELECT
NP_001287836.1:p.Glu652fs
NP_001287837.1:p.Glu584fs
NP_001356355.1:p.Glu824fs
NP_001356357.1:p.Glu652fs
NP_001356358.1:p.Glu652fs
NP_001356359.1:p.Glu652fs
NP_001356360.1:p.Glu652fs
NP_001356361.1:p.Glu652fs
NP_001356362.1:p.Glu652fs
NP_060105.3:p.Glu824fs
NC_000011.9:g.67925342_67925345del
NM_017635.3:c.2471_2474del

Protein change:

E584fs

Molecular consequence:

NM_001300907.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001300908.2:c.1751_1754del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369426.1:c.2471_2474del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369428.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369429.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369430.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369431.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369432.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369433.1:c.1955_1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017635.5:c.2471_2474del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, autosomal dominant 51
Synonyms:: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51
Identifiers:: MONDO: MONDO:0030917; MedGen: C4540474; OMIM: 617788

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003818153	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 6, 2020)	germline	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

SCV003818153

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 6, 2020)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Revvity Omics, Revvity, SCV003818153.2

#	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

Last Updated: Mar 16, 2024

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