NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser) AND Intellectual disability, autosomal dominant 51

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 2019
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:: RCV003138860.3

Allele description [Variation Report for NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)]

NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)

HGVS:

NC_000011.10:g.68158326C>T
NG_052873.1:g.60447G>A
NM_001300907.1:c.1504G>A
NM_001300908.2:c.1300G>A
NM_001369426.1:c.2020G>A
NM_001369428.1:c.1504G>A
NM_001369429.1:c.1504G>A
NM_001369430.1:c.1504G>A
NM_001369431.1:c.1504G>A
NM_001369432.1:c.1504G>A
NM_001369433.1:c.1504G>A
NM_017635.5:c.2020G>AMANE SELECT
NP_001287836.1:p.Gly502Ser
NP_001287837.1:p.Gly434Ser
NP_001356355.1:p.Gly674Ser
NP_001356357.1:p.Gly502Ser
NP_001356358.1:p.Gly502Ser
NP_001356359.1:p.Gly502Ser
NP_001356360.1:p.Gly502Ser
NP_001356361.1:p.Gly502Ser
NP_001356362.1:p.Gly502Ser
NP_060105.3:p.Gly674Ser
NC_000011.9:g.67925793C>T
NM_017635.3:c.2020G>A

Protein change:

G434S

Molecular consequence:

NM_001300907.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001300908.2:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369426.1:c.2020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369428.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369429.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369430.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369431.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369432.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369433.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017635.5:c.2020G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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MAG: 30S ribosomal protein S2 [bacterium (Candidatus Gribaldobacteria) CG07_land...
MAG: 30S ribosomal protein S2 [bacterium (Candidatus Gribaldobacteria) CG07_land_8_20_14_0_80_33_18]
gi|1277835926|gb|PIU47312.1||gnl|WG P|COS93_00075

Protein
Leiosolenus plumula gene for 18S ribosomal RNA, partial sequence
Leiosolenus plumula gene for 18S ribosomal RNA, partial sequence
gi|336454759|dbj|AB569162.1|

Nucleotide
large ribosomal subunit protein uL23 isoform X1 [Rattus norvegicus]
large ribosomal subunit protein uL23 isoform X1 [Rattus norvegicus]
gi|2678880016|ref|XP_063125448.1|

Protein
Mus musculus fucose kinase (Fcsk), transcript variant 3, non-coding RNA
Mus musculus fucose kinase (Fcsk), transcript variant 3, non-coding RNA
gi|391353393|ref|NR_052009.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003818152	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 23, 2019)	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

SCV003818152

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 23, 2019)

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, SCV003818152.2

#	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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