U.S. flag

An official website of the United States government

NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs) AND Achondrogenesis, type IA

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 27, 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:
RCV002310611.1

Allele description [Variation Report for NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs)]

NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs)

Gene:
TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs)
Other names:
p.Ala195CysfsTer11
HGVS:
  • NC_000014.9:g.92021562_92021563insT
  • NG_016970.1:g.23497_23498insA
  • NM_001321851.1:c.578_579insA
  • NM_004239.4:c.581_582insAMANE SELECT
  • NP_001308780.1:p.Ala194fs
  • NP_004230.2:p.Ala195fs
  • NC_000014.8:g.92487906_92487907insT
Protein change:
A194fs
Molecular consequence:
  • NM_001321851.1:c.578_579insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004239.4:c.581_582insA - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
1

Condition(s)

Name:
Achondrogenesis, type IA (ACG1A)
Synonyms:
Achondrogenesis type 1A; Achondrogenesis Houston-Harris type
Identifiers:
MONDO: MONDO:0008701; MedGen: C0265273; Orphanet: 932; Orphanet: 93299; OMIM: 200600

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002601631Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 27, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV002601631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

A Heterozygous frameshift variation in exon 4 of the TRIP11 gene . The observed variant has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 3, 2022