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NM_001018050.4(POLR3H):c.108C>G (p.Asn36Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 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:
RCV004260406.1

Allele description [Variation Report for NM_001018050.4(POLR3H):c.108C>G (p.Asn36Lys)]

NM_001018050.4(POLR3H):c.108C>G (p.Asn36Lys)

Gene:
POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_001018050.4(POLR3H):c.108C>G (p.Asn36Lys)
HGVS:
  • NC_000022.11:g.41543994G>C
  • NG_145936.1:g.264G>C
  • NM_001018050.4:c.108C>GMANE SELECT
  • NM_001018052.4:c.108C>G
  • NM_001282884.2:c.108C>G
  • NM_001282885.2:c.108C>G
  • NM_138338.5:c.108C>G
  • NP_001018060.1:p.Asn36Lys
  • NP_001018062.1:p.Asn36Lys
  • NP_001269813.1:p.Asn36Lys
  • NP_001269814.1:p.Asn36Lys
  • NP_612211.1:p.Asn36Lys
  • NC_000022.10:g.41939998G>C
  • NM_001018050.2:c.108C>G
Protein change:
N36K
Molecular consequence:
  • NM_001018050.4:c.108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018052.4:c.108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282884.2:c.108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282885.2:c.108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138338.5:c.108C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003880304Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003880304.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.108C>G (p.N36K) alteration is located in exon 1 (coding exon 1) of the POLR3H gene. This alteration results from a C to G substitution at nucleotide position 108, causing the asparagine (N) at amino acid position 36 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024