NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000501747.1

Allele description [Variation Report for NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)]

NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)

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.362G>A (p.Cys121Tyr)
HGVS:
  • NC_000015.10:g.66703620G>A
  • NG_012244.1:g.6285G>A
  • NG_012244.2:g.6285G>A
  • NM_005585.5:c.362G>AMANE SELECT
  • NP_005576.3:p.Cys121Tyr
  • NC_000015.9:g.66995958G>A
  • NM_005585.4:c.362G>A
  • NR_027654.2:n.1385G>A
Protein change:
C121Y
Links:
dbSNP: rs80232004
NCBI 1000 Genomes Browser:
rs80232004
Molecular consequence:
  • NM_005585.5:c.362G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027654.2:n.1385G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000597170Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Aug 19, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000597170.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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