NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val) AND Marfan syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 14, 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:: RCV000761570.1

Allele description [Variation Report for NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val)]

NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val)

Genes:

LOC130002223:ATAC-STARR-seq lymphoblastoid silent region 20124 [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.8C>T (p.Ala3Val)

HGVS:

NC_000009.12:g.99105213C>T
NG_007461.1:g.5084C>T
NM_001130916.3:c.8C>T
NM_001306210.2:c.8C>T
NM_004612.4:c.8C>TMANE SELECT
NP_001124388.1:p.Ala3Val
NP_001293139.1:p.Ala3Val
NP_004603.1:p.Ala3Val
NC_000009.11:g.101867495C>T
NM_004612.3:c.8C>T

Protein change:

A3V

Links:

dbSNP: rs1564120661

NCBI 1000 Genomes Browser:

rs1564120661

Molecular consequence:

NM_001130916.3:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001306210.2:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004612.4:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000890135	Medical Genetics Lab, Policlinico S. Orsola.Malpighi	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 14, 2019)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000890135

Medical Genetics Lab, Policlinico S. Orsola.Malpighi

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Mar 14, 2019)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Medical Genetics Lab, Policlinico S. Orsola.Malpighi, SCV000890135.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

Description

The c.8C>T (p.Ala3Val) variant in TGFBR1 is very rare (not reported in population databases) but has a benign computational verdict. Furthermore, the patient who carried this variant had a clinical diagnosis of Marfan syndrome, which was confirmed by MLPA analysis, that identified an intragenic deletion of FBN1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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