NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del) AND Achondrogenesis, type IA

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 18, 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:: RCV001370741.6

Allele description [Variation Report for NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del)]

NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del)

Gene:

TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q32.12

Genomic location:

Preferred name:

NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del)

HGVS:

NC_000014.9:g.92006038_92006043del
NG_016970.1:g.39018_39023del
NM_001321851.1:c.1931_1936del
NM_004239.4:c.1934_1939delMANE SELECT
NP_001308780.1:p.Lys644_Glu645del
NP_004230.2:p.Lys645_Glu646del
NC_000014.8:g.92472381_92472386del
NC_000014.8:g.92472382_92472387del

Links:

dbSNP: rs749191728

Molecular consequence:

NM_001321851.1:c.1931_1936del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004239.4:c.1934_1939del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Achondrogenesis, type IA (ACG1A)
Identifiers:: MONDO: MONDO:0008701; MedGen: C0265273; Orphanet: 932; Orphanet: 93299; OMIM: 200600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001567272	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001567272

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 18, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001567272.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.1934_1939del, results in the deletion of 2 amino acid(s) of the TRIP11 protein (p.Lys645_Glu646del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749191728, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1061203). 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 13, 2026

ClinVar

Relating variation to medicine