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NM_001127217.3(SMAD9):c.280C>T (p.Arg94Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 2023
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:
RCV004459658.1

Allele description [Variation Report for NM_001127217.3(SMAD9):c.280C>T (p.Arg94Cys)]

NM_001127217.3(SMAD9):c.280C>T (p.Arg94Cys)

Gene:
SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.3
Genomic location:
Preferred name:
NM_001127217.3(SMAD9):c.280C>T (p.Arg94Cys)
HGVS:
  • NC_000013.11:g.36879410G>A
  • NG_016963.1:g.45863C>T
  • NG_127622.1:g.408G>A
  • NM_001127217.3:c.280C>TMANE SELECT
  • NM_001378621.1:c.280C>T
  • NM_005905.6:c.280C>T
  • NP_001120689.1:p.Arg94Cys
  • NP_001120689.1:p.Arg94Cys
  • NP_001365550.1:p.Arg94Cys
  • NP_005896.1:p.Arg94Cys
  • LRG_703t1:c.280C>T
  • LRG_703:g.45863C>T
  • LRG_703p1:p.Arg94Cys
  • NC_000013.10:g.37453547G>A
  • NM_001127217.2:c.280C>T
  • NM_005905.5:c.280C>T
Protein change:
R94C
Molecular consequence:
  • NM_001127217.3:c.280C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378621.1:c.280C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005905.6:c.280C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004953360Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 25, 2023) 		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, SCV004953360.1

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

Description

The c.280C>T (p.R94C) alteration is located in exon 2 (coding exon 1) of the SMAD9 gene. This alteration results from a C to T substitution at nucleotide position 280, causing the arginine (R) at amino acid position 94 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024