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NM_006502.3(POLH):c.701G>A (p.Arg234His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 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:
RCV004512228.1

Allele description [Variation Report for NM_006502.3(POLH):c.701G>A (p.Arg234His)]

NM_006502.3(POLH):c.701G>A (p.Arg234His)

Gene:
POLH:DNA polymerase eta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_006502.3(POLH):c.701G>A (p.Arg234His)
HGVS:
  • NC_000006.12:g.43601028G>A
  • NG_009252.1:g.29888G>A
  • NG_028283.4:g.88941G>A
  • NM_001291969.2:c.329G>A
  • NM_001291970.2:c.701G>A
  • NM_006502.3:c.701G>AMANE SELECT
  • NP_001278898.1:p.Arg110His
  • NP_001278899.1:p.Arg234His
  • NP_006493.1:p.Arg234His
  • NP_006493.1:p.Arg234His
  • LRG_470t1:c.701G>A
  • LRG_470:g.29888G>A
  • LRG_470p1:p.Arg234His
  • NC_000006.11:g.43568765G>A
  • NM_006502.2:c.701G>A
Protein change:
R110H
Molecular consequence:
  • NM_001291969.2:c.329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291970.2:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006502.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005007125Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 26, 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, SCV005007125.1

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

Description

The c.701G>A (p.R234H) alteration is located in exon 6 (coding exon 5) of the POLH gene. This alteration results from a G to A substitution at nucleotide position 701, causing the arginine (R) at amino acid position 234 to be replaced by a histidine (H). 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: Sep 1, 2024