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NM_203290.4(POLR1C):c.470C>G (p.Ser157Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 2021
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:
RCV002000361.3

Allele description [Variation Report for NM_203290.4(POLR1C):c.470C>G (p.Ser157Cys)]

NM_203290.4(POLR1C):c.470C>G (p.Ser157Cys)

Gene:
POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_203290.4(POLR1C):c.470C>G (p.Ser157Cys)
HGVS:
  • NC_000006.12:g.43520153C>G
  • NG_028283.3:g.15452C>G
  • NM_001318876.2:c.470C>G
  • NM_001363658.2:c.470C>G
  • NM_203290.4:c.470C>GMANE SELECT
  • NP_001305805.1:p.Ser157Cys
  • NP_001350587.1:p.Ser157Cys
  • NP_976035.1:p.Ser157Cys
  • NC_000006.11:g.43487891C>G
Protein change:
S157C
Links:
dbSNP: rs750595496
NCBI 1000 Genomes Browser:
rs750595496
Molecular consequence:
  • NM_001318876.2:c.470C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363658.2:c.470C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203290.4:c.470C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002257766Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002257766.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces serine with cysteine at codon 157 of the POLR1C protein (p.Ser157Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs750595496, ExAC 0.007%). This variant has not been reported in the literature in individuals affected with POLR1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024