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NM_004613.4(TGM2):c.1153A>G (p.Ser385Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 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:
RCV004356297.1

Allele description [Variation Report for NM_004613.4(TGM2):c.1153A>G (p.Ser385Gly)]

NM_004613.4(TGM2):c.1153A>G (p.Ser385Gly)

Gene:
TGM2:transglutaminase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_004613.4(TGM2):c.1153A>G (p.Ser385Gly)
HGVS:
  • NC_000020.11:g.38139601T>C
  • NM_001323316.2:c.1153A>G
  • NM_001323317.2:c.910A>G
  • NM_001323318.2:c.973A>G
  • NM_004613.4:c.1153A>GMANE SELECT
  • NM_198951.3:c.1153A>G
  • NP_001310245.1:p.Ser385Gly
  • NP_001310246.1:p.Ser304Gly
  • NP_001310247.1:p.Ser325Gly
  • NP_004604.2:p.Ser385Gly
  • NP_945189.1:p.Ser385Gly
  • NC_000020.10:g.36768003T>C
  • NM_004613.2:c.1153A>G
Protein change:
S304G
Molecular consequence:
  • NM_001323316.2:c.1153A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323317.2:c.910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323318.2:c.973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004613.4:c.1153A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198951.3:c.1153A>G - 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
SCV004083587Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 19, 2023) 		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, SCV004083587.2

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

Description

The c.1153A>G (p.S385G) alteration is located in exon 9 (coding exon 9) of the TGM2 gene. This alteration results from a A to G substitution at nucleotide position 1153, causing the serine (S) at amino acid position 385 to be replaced by a glycine (G). 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 3, 2024