NM_007055.4(POLR3A):c.3337-11T>C AND Neonatal pseudo-hydrocephalic progeroid syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Oct 1, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000754381.12

Allele description

NM_007055.4(POLR3A):c.3337-11T>C

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.3337-11T>C

HGVS:

NC_000010.11:g.77984023A>G
NG_029648.1:g.50518T>C
NM_007055.4:c.3337-11T>CMANE SELECT
NC_000010.10:g.79743781A>G
NM_007055.3:c.3337-11T>C

Links:

OMIM: 614258.0010; dbSNP: rs1564613755

NCBI 1000 Genomes Browser:

rs1564613755

Molecular consequence:

NM_007055.4:c.3337-11T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Neonatal pseudo-hydrocephalic progeroid syndrome
Synonyms:: Wiedemann-Rautenstrauch syndrome
Identifiers:: MONDO: MONDO:0009910; MedGen: C0406586; Orphanet: 3455; OMIM: 264090

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786630	Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 1, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV000886474	Cole/Wambach Lab, Washington University in St. Louis	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 1, 2018)	inherited	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 30414627
SCV001424847	DESAM Institute, Near East University	no assertion criteria provided	Pathogenic (Dec 4, 2018)	paternal	clinical testing
SCV001479497	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	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
not provided	inherited	yes	2	not provided	not provided	not provided	not provided	research
Turkish, Ashkenzai Jewish, Causasian	paternal	yes	2	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

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.

Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.

PubMed [citation]

PMID:: 30414627
PMCID:: PMC6288318

Details of each submission

From Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital, SCV000786630.1

#	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

From Cole/Wambach Lab, Washington University in St. Louis, SCV000886474.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From DESAM Institute, Near East University, SCV001424847.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Turkish, Ashkenzai Jewish, Causasian	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479497.1

#	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	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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