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NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer) AND Aortic valve disease 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2022
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:
RCV003024007.3

Allele description [Variation Report for NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)]

NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)

Gene:
SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
HGVS:
  • NC_000015.10:g.66781085_66781088del
  • NG_012244.2:g.83750_83753del
  • NM_005585.5:c.1041_1044delMANE SELECT
  • NP_005576.3:p.Leu346_Tyr347insTer
  • NC_000015.9:g.67073423_67073426del
  • NR_027654.2:n.2196_2199del
Molecular consequence:
  • NR_027654.2:n.2196_2199del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_005585.5:c.1041_1044del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Aortic valve disease 2 (AOVD2)
Identifiers:
MONDO: MONDO:0013902; MedGen: C3542024; OMIM: 614823

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003329894Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003329894.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal (p.Tyr347*) in the SMAD6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acid(s) of the SMAD6 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024