NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter) AND Rubinstein Taybi like syndrome

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001261778.1

Allele description [Variation Report for NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter)]

NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter)

Gene:

KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter)

HGVS:

NC_000012.12:g.49042158G>A
NG_027827.1:g.18167C>T
NM_003482.4:c.6040C>TMANE SELECT
NP_003473.3:p.Gln2014Ter
NC_000012.11:g.49435941G>A
NM_003482.3:c.6040C>T

Protein change:

Q2014*

Links:

dbSNP: rs1943567949

NCBI 1000 Genomes Browser:

rs1943567949

Molecular consequence:

NM_003482.4:c.6040C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Rubinstein Taybi like syndrome
Synonyms:: Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses
Identifiers:: MONDO: MONDO:0043195; MedGen: C2931052

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439094	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439094

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, et al.

Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26.

PubMed [citation]

PMID:: 30806792
PMCID:: PMC6736609

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439094.1

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

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

Last Updated: Apr 23, 2022

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