NM_005359.6(SMAD4):c.102A>G (p.Thr34=) AND Generalized juvenile polyposis/juvenile polyposis coli

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 29, 2016
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:: RCV000409431.7

Allele description [Variation Report for NM_005359.6(SMAD4):c.102A>G (p.Thr34=)]

NM_005359.6(SMAD4):c.102A>G (p.Thr34=)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005359.6(SMAD4):c.102A>G (p.Thr34=)

HGVS:

NC_000018.10:g.51047148A>G
NG_013013.2:g.84109A>G
NM_005359.6:c.102A>GMANE SELECT
NP_005350.1:p.Thr34=
NP_005350.1:p.Thr34=
LRG_318t1:c.102A>G
LRG_318:g.84109A>G
LRG_318p1:p.Thr34=
NC_000018.9:g.48573518A>G
NM_005359.5:c.102A>G
p.T34T

Links:

dbSNP: rs146104321

NCBI 1000 Genomes Browser:

rs146104321

Molecular consequence:

NM_005359.6:c.102A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Generalized juvenile polyposis/juvenile polyposis coli
Synonyms:: Juvenile polyposis coli
Identifiers:: MONDO: MONDO:0008276; MedGen: C1868081; Orphanet: 329971

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489157	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Aug 29, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489157

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Aug 29, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000489157.2

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

Last Updated: Sep 29, 2024

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