U.S. flag

An official website of the United States government

NM_000359.3(TGM1):c.1131_1134dup (p.Val379fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2023
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:
RCV003863745.2

Allele description [Variation Report for NM_000359.3(TGM1):c.1131_1134dup (p.Val379fs)]

NM_000359.3(TGM1):c.1131_1134dup (p.Val379fs)

Gene:
TGM1:transglutaminase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_000359.3(TGM1):c.1131_1134dup (p.Val379fs)
HGVS:
  • NC_000014.9:g.24259101_24259104dup
  • NG_007150.2:g.9064_9067dup
  • NG_128805.1:g.748_751dup
  • NM_000359.3:c.1131_1134dupMANE SELECT
  • NP_000350.1:p.Val379fs
  • NC_000014.8:g.24728305_24728306insCCAG
  • NC_000014.8:g.24728307_24728310dup
Protein change:
V379fs
Molecular consequence:
  • NM_000359.3:c.1131_1134dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV004665952Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 13, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR.

J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.

PubMed [citation]
PMID:
18948357
PMCID:
PMC3044481

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR.

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review.

PubMed [citation]
PMID:
19241467
PMCID:
PMC3243309
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004665952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TGM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val379Leufs*53) in the TGM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGM1 are known to be pathogenic (PMID: 18948357, 19241467).

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

Last Updated: Sep 29, 2024