NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) AND Acrofacial dysostosis Cincinnati type

Germline classification:: 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:: RCV000768447.2

Allele description [Variation Report for NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)]

NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)

Gene:

POLR1A:RNA polymerase I subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

Preferred name:

NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)

HGVS:

NC_000002.12:g.86048991G>A
NG_050742.2:g.62165C>T
NM_015425.6:c.2527C>TMANE SELECT
NP_056240.2:p.Arg843Ter
NC_000002.11:g.86276114G>A
NM_015425.3:c.2527C>T

Protein change:

R843*

Links:

dbSNP: rs1377622831

NCBI 1000 Genomes Browser:

rs1377622831

Molecular consequence:

NM_015425.6:c.2527C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Acrofacial dysostosis Cincinnati type
Identifiers:: MONDO: MONDO:0014651; MedGen: C4225317; Orphanet: 1200; OMIM: 616462

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000899208	Biochemistry Laboratory of CDMU, Chengde Medical University	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic	de novo	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000899208

Biochemistry Laboratory of CDMU, Chengde Medical University

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic

de novo

case-control

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	case-control

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 Biochemistry Laboratory of CDMU, Chengde Medical University, SCV000899208.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	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

ClinVar

Relating variation to medicine