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NM_005585.5(SMAD6):c.1087G>A (p.Gly363Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2024
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:
RCV004521473.1

Allele description [Variation Report for NM_005585.5(SMAD6):c.1087G>A (p.Gly363Ser)]

NM_005585.5(SMAD6):c.1087G>A (p.Gly363Ser)

Gene:
SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_005585.5(SMAD6):c.1087G>A (p.Gly363Ser)
HGVS:
  • NC_000015.10:g.66781131G>A
  • NG_012244.2:g.83796G>A
  • NM_005585.5:c.1087G>AMANE SELECT
  • NP_005576.3:p.Gly363Ser
  • NC_000015.9:g.67073469G>A
  • NM_005585.4:c.1087G>A
  • NR_027654.2:n.2242G>A
Protein change:
G363S
Molecular consequence:
  • NM_005585.5:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027654.2:n.2242G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005023707Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 4, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005023707.1

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

Description

The p.G363S variant (also known as c.1087G>A), located in coding exon 4 of the SMAD6 gene, results from a G to A substitution at nucleotide position 1087. The glycine at codon 363 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available 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