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NM_003242.6(TGFBR2):c.383del (p.Lys128fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(1);Likely pathogenic(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 23, 2021)
Last evaluated:
Jun 25, 2020
Accession:
VCV000477546.11
Variation ID:
477546
Description:
1bp deletion
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NM_003242.6(TGFBR2):c.383del (p.Lys128fs)

Allele ID
452306
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p24.1
Genomic location
3: 30650380 (GRCh38) GRCh38 UCSC
3: 30691872 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_003242.5:c.383del
LRG_779:g.48888del
LRG_779t1:c.458del LRG_779p1:p.Lys153fs
... more HGVS
Protein change
K153fs, K128fs
Other names
-
Canonical SPDI
NC_000003.12:30650379:AAAAAAAAAA:AAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA048107
dbSNP: rs79375991
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 25, 2020 RCV000559144.2
Benign 1 criteria provided, single submitter May 6, 2020 RCV000617551.2
Likely pathogenic 1 criteria provided, single submitter Mar 10, 2018 RCV000680445.1
Benign 3 criteria provided, single submitter Feb 9, 2019 RCV001001460.5
Likely benign 1 no assertion criteria provided - RCV001702809.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TGFBR2 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
695 711

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Aug 04, 2017)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000658831.1
Submitted: (Oct 05, 2017)
Likely pathogenic
(Mar 10, 2018)
criteria provided, single submitter
Method: clinical testing
Loeys-Dietz syndrome
Affected status: no
Allele origin: germline
GeneID Lab - Advanced Molecular Diagnostics
Accession: SCV000807818.1
Submitted: (Jul 16, 2018)
Comment:
This variant results in an amino acid alteration replacing a lysine (K) with a serine (S) at position 128 creating a premature stop signal in … (more)
Number of individuals with the variant: 1
Age: 20-29 years
Sex: female
Ethnicity/Population group: Latin American
Geographic origin: United States
Benign
(Feb 09, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158709.1
Submitted: (Aug 05, 2019)
Benign
(May 06, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Affected status: unknown
Allele origin: germline
Ambry Genetics
Accession: SCV000739846.3
Submitted: (Nov 30, 2020)
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Number of individuals with the variant: 1
Likely benign
(Jun 25, 2020)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Affected status: unknown
Allele origin: germline
Color Health, Inc
Accession: SCV001735851.1
Submitted: (Jun 11, 2021)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740432.3
Submitted: (Sep 02, 2021)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928220.1
Submitted: (Sep 23, 2021)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001965452.1
Submitted: (Sep 21, 2021)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs79375991...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 08, 2022