NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) AND Neonatal pseudo-hydrocephalic progeroid syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 1, 2018
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:: RCV000754388.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)]

NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)

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.2707G>A (p.Gly903Arg)

Other names:

NM_007055.4(POLR3A):c.2707G>A; p.Gly903Arg

HGVS:

NC_000010.11:g.77993277C>T
NG_029648.1:g.41264G>A
NM_007055.4:c.2707G>AMANE SELECT
NP_008986.2:p.Gly903Arg
NC_000010.10:g.79753035C>T
NM_007055.3:c.2707G>A

Protein change:

G903R

Links:

dbSNP: rs1399429058

NCBI 1000 Genomes Browser:

rs1399429058

Molecular consequence:

NM_007055.4:c.2707G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000786637	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786637

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]

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 Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital, SCV000786637.1

#	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: Mar 30, 2024

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