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NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 25, 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:
RCV000766900.4

Allele description [Variation Report for NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)]

NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)

Gene:
TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)
Other names:
p.N45S:AAT>AGT
HGVS:
  • NC_000009.12:g.99128891A>G
  • NG_007461.1:g.28762A>G
  • NM_001130916.3:c.134A>G
  • NM_001306210.2:c.134A>G
  • NM_004612.4:c.134A>GMANE SELECT
  • NP_001124388.1:p.Asn45Ser
  • NP_001293139.1:p.Asn45Ser
  • NP_004603.1:p.Asn45Ser
  • NC_000009.11:g.101891173A>G
  • NM_004612.2:c.134A>G
  • P36897:p.Asn45Ser
Protein change:
N45S; ASN45SER
Links:
UniProtKB: P36897#VAR_065827; OMIM: 190181.0009; dbSNP: rs387906696
NCBI 1000 Genomes Browser:
rs387906696
Molecular consequence:
  • NM_001130916.3:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306210.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004612.4:c.134A>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
SCV000250868GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 25, 2022) 		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, SCV000250868.12

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

Description

Identified in an individual with aortic dissection, multiple aortic and arterial aneurysms, hypermobility, and a significant family history, although segregation data was not available (Overwater et al., 2018); Observed in one Scottish family with multiple self-healing squamous epithelioma (MSSE); however, it was identified in two symptomatic relatives and one asymptomatic relative (Goudie D et al., 2011), and additional evidence is needed to establish the association between TGFBR1 variants and MSSE; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25275298, 23358093, 28498993, 23358096, 24747516, 33824467, 29907982, 21358634)

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

Last Updated: Apr 20, 2024