NM_005900.3(SMAD1):c.8T>C (p.Val3Ala) AND Pulmonary hypertension, primary, 1

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000488453.2

Allele description [Variation Report for NM_005900.3(SMAD1):c.8T>C (p.Val3Ala)]

NM_005900.3(SMAD1):c.8T>C (p.Val3Ala)

Genes:

SMAD1:SMAD family member 1 [Gene - OMIM - HGNC]
SMAD1-AS1:SMAD1 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.21

Genomic location:

Preferred name:

NM_005900.3(SMAD1):c.8T>C (p.Val3Ala)

HGVS:

NC_000004.12:g.145514621T>C
NG_042284.1:g.37823T>C
NM_001003688.1:c.8T>C
NM_001354811.1:c.8T>C
NM_001354812.1:c.8T>C
NM_001354813.1:c.8T>C
NM_001354814.1:c.8T>C
NM_001354816.1:c.8T>C
NM_001354817.1:c.8T>C
NM_005900.3:c.8T>CMANE SELECT
NP_001003688.1:p.Val3Ala
NP_001341740.1:p.Val3Ala
NP_001341741.1:p.Val3Ala
NP_001341742.1:p.Val3Ala
NP_001341743.1:p.Val3Ala
NP_001341745.1:p.Val3Ala
NP_001341746.1:p.Val3Ala
NP_005891.1:p.Val3Ala
NC_000004.11:g.146435773T>C
NM_005900.2:c.8T>C
NP_005891.1:p.V3A
NR_126371.1:n.551A>G
Q15797:p.Val3Ala

Protein change:

V3A; VAL3ALA

Links:

UniProtKB: Q15797#VAR_066869; OMIM: 601595.0001; dbSNP: rs587777018

NCBI 1000 Genomes Browser:

rs587777018

Molecular consequence:

NM_001003688.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354811.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354812.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354813.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354814.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354816.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354817.1:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005900.3:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_126371.1:n.551A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Pulmonary hypertension, primary, 1
Identifiers:: MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576361	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576361

Rare Disease Genomics Group, St George's University of London

no assertion criteria provided

Uncertain significance

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

Nasim MT, Ogo T, Ahmed M, Randall R, Chowdhury HM, Snape KM, Bradshaw TY, Southgate L, Lee GJ, Jackson I, Lord GM, Gibbs JS, Wilkins MR, Ohta-Ogo K, Nakamura K, Girerd B, Coulet F, Soubrier F, Humbert M, Morrell NW, Trembath RC, Machado RD.

Hum Mutat. 2011 Dec;32(12):1385-9. doi: 10.1002/humu.21605. Epub 2011 Oct 11.

PubMed [citation]

PMID:: 21898662

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576361.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Apr 15, 2024

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