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NM_004612.4(TGFBR1):c.973+19C>A AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 5, 2017
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:
RCV000587431.1

Allele description [Variation Report for NM_004612.4(TGFBR1):c.973+19C>A]

NM_004612.4(TGFBR1):c.973+19C>A

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.973+19C>A
HGVS:
  • NC_000009.12:g.99142722C>A
  • NG_007461.1:g.42593C>A
  • NM_001130916.3:c.742+19C>A
  • NM_001306210.2:c.985+19C>A
  • NM_004612.4:c.973+19C>AMANE SELECT
  • NC_000009.11:g.101905004C>A
  • NM_004612.2:c.973+19C>A
Links:
dbSNP: rs183796807
NCBI 1000 Genomes Browser:
rs183796807
Molecular consequence:
  • NM_001130916.3:c.742+19C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001306210.2:c.985+19C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004612.4:c.973+19C>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000698489Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Apr 5, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698489.1

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

Description

Variant summary: The TGFBR1 c.973+19C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/121196 control chromosomes at a frequency of 0.0000248, which is approximately 16 times the estimated maximal expected allele frequency of a pathogenic TGFBR1 variant (0.0000016), suggesting this variant is likely a benign polymorphism. However, due to the small number of occurrences in this database, the population frequency cannot be taken as unequivocal evidence that the variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likley benign.

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

Last Updated: Feb 20, 2024