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NM_005901.6(SMAD2):c.1290G>A (p.Thr430=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 22, 2020
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:
RCV002380533.2

Allele description [Variation Report for NM_005901.6(SMAD2):c.1290G>A (p.Thr430=)]

NM_005901.6(SMAD2):c.1290G>A (p.Thr430=)

Gene:
SMAD2:SMAD family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_005901.6(SMAD2):c.1290G>A (p.Thr430=)
HGVS:
  • NC_000018.10:g.47841941C>T
  • NG_029946.1:g.94204G>A
  • NG_029946.2:g.93931G>A
  • NM_001003652.4:c.1290G>A
  • NM_001135937.3:c.1200G>A
  • NM_005901.6:c.1290G>AMANE SELECT
  • NP_001003652.1:p.Thr430=
  • NP_001129409.1:p.Thr400=
  • NP_005892.1:p.Thr430=
  • NC_000018.9:g.45368312C>T
  • NM_005901.4:c.1290G>A
Molecular consequence:
  • NM_001003652.4:c.1290G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001135937.3:c.1200G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005901.6:c.1290G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002694135Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 22, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002694135.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024