NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 6, 2018
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:: RCV000199866.17

Allele description [Variation Report for NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)]

NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)

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.1433A>G (p.Asn478Ser)

Other names:

p.N478S:AAT>AGT

HGVS:

NC_000009.12:g.99149226A>G
NG_007461.1:g.49097A>G
NM_001130916.3:c.1202A>G
NM_001306210.2:c.1445A>G
NM_004612.4:c.1433A>GMANE SELECT
NP_001124388.1:p.Asn401Ser
NP_001293139.1:p.Asn482Ser
NP_004603.1:p.Asn478Ser
NC_000009.11:g.101911508A>G
NM_001130916.1:c.1202A>G
NM_004612.2:c.1433A>G
NM_004612.3:c.1433A>G

Protein change:

N401S

Links:

dbSNP: rs141259922

NCBI 1000 Genomes Browser:

rs141259922

Molecular consequence:

NM_001130916.3:c.1202A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306210.2:c.1445A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004612.4:c.1433A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000540517	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Mar 6, 2018)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 27647783, 25504618, 24055113, 27153395, 27879313, 25985138, 16928994, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000540517

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(Mar 6, 2018)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.

Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10.

PubMed [citation]

PMID:: 27647783

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

De Leeneer K, Hellemans J, Steyaert W, Lefever S, Vereecke I, Debals E, Crombez B, Baetens M, Van Heetvelde M, Coppieters F, Vandesompele J, De Jaegher A, De Baere E, Coucke P, Claes K.

Hum Mutat. 2015 Mar;36(3):379-87. doi: 10.1002/humu.22739.

PubMed [citation]

PMID:: 25504618

See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000540517.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

p.Asn478Ser in exon 9 of TGFBR1: This variant is not expected to have clinical significance because it has been identified in 0.05% (59/125980) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs141259922) and in 2 unaffected parents (Loeys 2006). ACMG/AMP Criteria applied: BS2; BS1_Supporting.

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

Last Updated: May 12, 2024

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