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NM_003238.6(TGFB2):c.101G>A (p.Arg34His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2018
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:
RCV000484113.1

Allele description [Variation Report for NM_003238.6(TGFB2):c.101G>A (p.Arg34His)]

NM_003238.6(TGFB2):c.101G>A (p.Arg34His)

Gene:
TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_003238.6(TGFB2):c.101G>A (p.Arg34His)
HGVS:
  • NC_000001.11:g.218346802G>A
  • NG_027721.2:g.6469G>A
  • NM_001135599.4:c.101G>A
  • NM_003238.6:c.101G>AMANE SELECT
  • NP_001129071.1:p.Arg34His
  • NP_003229.1:p.Arg34His
  • NC_000001.10:g.218520144G>A
  • NM_003238.3:c.101G>A
  • NR_138148.2:n.1467G>A
  • NR_138149.2:n.1467G>A
Protein change:
R34H
Links:
dbSNP: rs1064796462
NCBI 1000 Genomes Browser:
rs1064796462
Molecular consequence:
  • NM_001135599.4:c.101G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003238.6:c.101G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_138148.2:n.1467G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_138149.2:n.1467G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573197GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 2, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573197.3

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

Description

The R34H variant in the TGFB2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R34H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R34H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, we interpret R34H as a variant of uncertain significance.

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

Last Updated: Mar 16, 2024