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NM_019009.4(TOLLIP):c.26G>A (p.Arg9His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 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:
RCV004236465.1

Allele description [Variation Report for NM_019009.4(TOLLIP):c.26G>A (p.Arg9His)]

NM_019009.4(TOLLIP):c.26G>A (p.Arg9His)

Genes:
LOC130005112:ATAC-STARR-seq lymphoblastoid silent region 3052 [Gene]
TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_019009.4(TOLLIP):c.26G>A (p.Arg9His)
HGVS:
  • NC_000011.10:g.1309473C>T
  • NM_001318512.2:c.26G>A
  • NM_001318515.2:c.26G>A
  • NM_001318516.2:c.26G>A
  • NM_019009.4:c.26G>AMANE SELECT
  • NP_001305441.1:p.Arg9His
  • NP_001305444.1:p.Arg9His
  • NP_001305445.1:p.Arg9His
  • NP_061882.2:p.Arg9His
  • NC_000011.9:g.1330703C>T
  • NM_019009.3:c.26G>A
Protein change:
R9H
Molecular consequence:
  • NM_001318512.2:c.26G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318515.2:c.26G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318516.2:c.26G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019009.4:c.26G>A - 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
SCV003746683Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 12, 2021) 		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, SCV003746683.2

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

Description

The c.26G>A (p.R9H) alteration is located in exon 1 (coding exon 1) of the TOLLIP gene. This alteration results from a G to A substitution at nucleotide position 26, causing the arginine (R) at amino acid position 9 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: Nov 10, 2024