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NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 28, 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:
RCV000845292.1

Allele description [Variation Report for NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)]

NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)

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.722C>T (p.Ser241Leu)
HGVS:
  • NC_000009.12:g.99138006C>T
  • NG_007461.1:g.37877C>T
  • NM_001130916.3:c.491C>T
  • NM_001306210.2:c.734C>T
  • NM_004612.4:c.722C>TMANE SELECT
  • NP_001124388.1:p.Ser164Leu
  • NP_001293139.1:p.Ser245Leu
  • NP_004603.1:p.Ser241Leu
  • NC_000009.11:g.101900288C>T
  • NM_004612.2:c.722C>T
  • P36897:p.Ser241Leu
Protein change:
S164L; SER241LEU
Links:
UniProtKB: P36897#VAR_029482; OMIM: 190181.0005; dbSNP: rs111854391
NCBI 1000 Genomes Browser:
rs111854391
Molecular consequence:
  • NM_001130916.3:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306210.2:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004612.4:c.722C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
variation affecting protein function [Variation Ontology: 0003]
Observations:
1

Condition(s)

Name:
Loeys-Dietz syndrome 1 (LDS1)
Synonyms:
Loeys-Dietz syndrome type 1A; Furlong syndrome; Aortic aneurysm syndrome, Loeys-Dietz type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012212; MedGen: C4551955; Orphanet: 60030; OMIM: 609192
Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986693Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 28, 2019) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV000986693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The p.Ser241Leu variant was found in one individual with Marfanoid phenotype at our clinical center. This variant is a known mutation associated with a Loeys-Dietz syndrome (PMID: 16596670, 16791849, 16928994, 27879313) and was also found in patients with colorectal cancer (PMID: 28743916) with a functional consequences of the variant. The S241L variant has a very low frequency (rs111854391). ClinVar has an entry for this variant (Variation ID: 12524). Based on this evidences the p.Ser241Leu is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024