NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala) AND Broad distal phalanx of the thumb

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 11, 2023
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:: RCV002510245.1

Allele description [Variation Report for NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala)]

NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala)

Genes:

LOC130057352:ATAC-STARR-seq lymphoblastoid silent region 6574 [Gene]
SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.33

Genomic location:

Preferred name:

NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala)

HGVS:

NC_000015.10:g.67066182C>G
NG_011990.2:g.5582C>G
NG_131368.1:g.123C>G
NM_001407011.1:c.28C>G
NM_001407012.1:c.28C>G
NM_001407013.1:c.28C>G
NM_005902.4:c.28C>GMANE SELECT
NP_001393940.1:p.Pro10Ala
NP_001393941.1:p.Pro10Ala
NP_001393942.1:p.Pro10Ala
NP_005893.1:p.Pro10Ala
NC_000015.9:g.67358520C>G
NG_011990.1:g.5326C>G

Protein change:

P10A

Molecular consequence:

NM_001407011.1:c.28C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407012.1:c.28C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407013.1:c.28C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005902.4:c.28C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Broad distal phalanx of the thumb
Identifiers:: MedGen: C1863402; Human Phenotype Ontology: HP:0009642

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002819143	PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII	no assertion criteria provided	Likely pathogenic (Jan 11, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002819143

PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII

no assertion criteria provided

Likely pathogenic
(Jan 11, 2023)

germline

clinical testing

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	clinical testing

Details of each submission

From PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII, SCV002819143.1

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

#	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: Oct 14, 2023

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