NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 22, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000359112.6

Allele description [Variation Report for NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)]

NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)

Gene:
TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
HGVS:
  • NC_000014.9:g.92004372T>G
  • NG_016970.1:g.40688A>C
  • NM_001321851.1:c.3601A>C
  • NM_004239.4:c.3604A>CMANE SELECT
  • NP_001308780.1:p.Asn1201His
  • NP_004230.2:p.Asn1202His
  • NC_000014.8:g.92470716T>G
  • NM_004239.3:c.3604A>C
Protein change:
N1201H
Links:
dbSNP: rs41301481
NCBI 1000 Genomes Browser:
rs41301481
Molecular consequence:
  • NM_001321851.1:c.3601A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004239.4:c.3604A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000345393EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Sep 1, 2016)
germlineclinical testing

Citation Link,

SCV000605433ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Aug 22, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000345393.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000605433.3

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

Description

The TRIP11 c.3604A>C, p.Asn1202His variant (rs41301481) has not been reported in the medical literature, but is listed in ClinVar (Variation ID: 290765). It is observed in the general population databases at a frequency of 0.08 percent in the 1000 Genomes Project (4/5008 alleles), 0.26 percent in the Exome Variant Server (34/13006 alleles), and 0.2 percent in the Genome Aggregation Database (565/282,578 alleles, 2 homozygotes). The asparagine at position 1202 is highly conserved (Alamut v2.11), and computational algorithms (PolyPhen-2: probably damaging; SIFT: deleterious) are deleterious on the variant's impact on TRIP11 protein structure or function. Although evidence suggests that p.Asn1202His may be a rare benign variant, there is insufficient information to determine its clinical significance with certainty.

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

Last Updated: Nov 27, 2021

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