NM_000937.5(POLR2A):c.3373_3375del (p.Lys1125del) AND Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 17, 2020
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:: RCV001374639.1

Allele description [Variation Report for NM_000937.5(POLR2A):c.3373_3375del (p.Lys1125del)]

NM_000937.5(POLR2A):c.3373_3375del (p.Lys1125del)

Gene:

POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000937.5(POLR2A):c.3373_3375del (p.Lys1125del)

HGVS:

NC_000017.11:g.7508383_7508385del
NG_027747.2:g.29005_29007del
NM_000937.5:c.3373_3375delMANE SELECT
NP_000928.1:p.Lys1125del
NC_000017.10:g.7411702_7411704del
NM_000937.4:c.3373_3375delAAG

Protein change:

K1125del

Links:

dbSNP: rs2150887186

NCBI 1000 Genomes Browser:

rs2150887186

Molecular consequence:

NM_000937.5:c.3373_3375del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Identifiers:: MONDO: MONDO:0032829; MedGen: C5231423; OMIM: 618603

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571557	Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic (Apr 17, 2020)	de novo	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

SCV001571557

Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 17, 2020)

de novo

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	de novo	yes	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 Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV001571557.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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