NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) AND not specified

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 22, 2022
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:: RCV002285015.9

Allele description [Variation Report for NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)]

NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)

Gene:

POLR3B:RNA polymerase III subunit B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.3

Genomic location:

Preferred name:

NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)

Other names:

NM_018082.5(POLR3B):c.1988C>T

HGVS:

NC_000012.12:g.106444495C>T
NG_031837.1:g.91838C>T
NM_001160708.2:c.1814C>T
NM_018082.6:c.1988C>TMANE SELECT
NP_001154180.1:p.Thr605Ile
NP_060552.4:p.Thr663Ile
NC_000012.11:g.106838273C>T
NM_018082.5:c.1988C>T

Protein change:

T605I

Links:

dbSNP: rs755312623

NCBI 1000 Genomes Browser:

rs755312623

Molecular consequence:

NM_001160708.2:c.1814C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018082.6:c.1988C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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POGLUT1 [Delphinapterus leucas]
POGLUT1 [Delphinapterus leucas]
Gene ID:111167187

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002574816	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin See additional submitters CUBI - Core Unit Bioinformatics, Berlin Institute of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 22, 2022)	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

SCV002574816

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 22, 2022)

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	yes	1	not provided	not provided	1	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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV002574816.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	yes	1	Blood	not provided		1	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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