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NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 2019
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:
RCV001811485.13

Allele description [Variation Report for NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)]

NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)

Gene:
TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
HGVS:
  • NC_000014.9:g.75959207T>C
  • NG_011715.1:g.27543A>G
  • NM_001329939.2:c.1219A>G
  • NM_003239.5:c.1219A>GMANE SELECT
  • NP_001316868.1:p.Lys407Glu
  • NP_003230.1:p.Lys407Glu
  • LRG_399:g.27543A>G
  • NC_000014.8:g.76425550T>C
  • NM_003239.2:c.1219A>G
  • NM_003239.3:c.1219A>G
Protein change:
K407E
Links:
dbSNP: rs1248127840
NCBI 1000 Genomes Browser:
rs1248127840
Molecular consequence:
  • NM_001329939.2:c.1219A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.1219A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001473546ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Oct 21, 2019) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473546.1

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

Description

The TGFB3 c.1219A>G; p.Lys407Glu variant (rs1248127840), to our knowledge, is not reported in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 640810). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The lysine at codon 407 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Lys407Glu variant is uncertain at this time.

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

Last Updated: Nov 3, 2024