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NM_003846.3(PEX11B):c.338G>A (p.Arg113His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 2022
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:
RCV003030091.3

Allele description [Variation Report for NM_003846.3(PEX11B):c.338G>A (p.Arg113His)]

NM_003846.3(PEX11B):c.338G>A (p.Arg113His)

Gene:
PEX11B:peroxisomal biogenesis factor 11 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.1
Genomic location:
Preferred name:
NM_003846.3(PEX11B):c.338G>A (p.Arg113His)
HGVS:
  • NC_000001.11:g.145916853C>T
  • NG_032654.2:g.15684G>A
  • NG_033000.3:g.7072G>A
  • NM_001184795.1:c.296G>A
  • NM_003846.3:c.338G>AMANE SELECT
  • NP_001171724.1:p.Arg99His
  • NP_003837.1:p.Arg113His
  • LRG_574:g.15684G>A
  • NC_000001.10:g.145518236G>A
  • NR_073491.2:n.363G>A
  • NR_073492.2:n.357G>A
  • NR_073493.2:n.786G>A
Protein change:
R113H
Molecular consequence:
  • NM_001184795.1:c.296G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003846.3:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073491.2:n.363G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073492.2:n.357G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073493.2:n.786G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003334102Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 19, 2022) 		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, SCV003334102.2

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PEX11B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 113 of the PEX11B protein (p.Arg113His).

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

Last Updated: Oct 8, 2024