NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) AND POLR3A-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2023
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:: RCV003387736.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)]

NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)

Gene:

POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

Preferred name:

NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)

HGVS:

NC_000010.11:g.78004792C>T
NG_029648.1:g.29749G>A
NM_007055.4:c.2171G>AMANE SELECT
NP_008986.2:p.Cys724Tyr
NC_000010.10:g.79764550C>T
NM_007055.3:c.2171G>A
O14802:p.Cys724Tyr

Protein change:

C724Y

Links:

UniProtKB: O14802#VAR_066520; dbSNP: rs267608679

NCBI 1000 Genomes Browser:

rs267608679

Molecular consequence:

NM_007055.4:c.2171G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: POLR3A-related disorder
Synonyms:: POLR3A-related disorders; POLR3A-related condition
Identifiers:

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RecName: Full=Protein bicaudal D homolog 2; Short=Bic-D 2
RecName: Full=Protein bicaudal D homolog 2; Short=Bic-D 2
gi|34098604|sp|Q8TD16.1|BICD2_HUMAN

Protein
Polyp of vocal cord
Polyp of vocal cord

MedGen
C0042929[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920802	Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 27, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003920802

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 27, 2023)

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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 Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), SCV003920802.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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