NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Oct 18, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000429738.4

Allele description [Variation Report for NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)]

NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)

Gene:
SIL1:SIL1 nucleotide exchange factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)
HGVS:
  • NC_000005.10:g.139121040T>C
  • NG_008112.1:g.82337A>G
  • NG_008112.2:g.82337A>G
  • NM_001037633.2:c.239A>G
  • NM_022464.5:c.239A>GMANE SELECT
  • NP_001032722.1:p.Gln80Arg
  • NP_071909.1:p.Gln80Arg
  • NC_000005.9:g.138456729T>C
  • NM_022464.4:c.239A>G
  • Q9H173:p.Gln80Arg
Protein change:
Q80R
Links:
UniProtKB: Q9H173#VAR_034495; dbSNP: rs35581768
NCBI 1000 Genomes Browser:
rs35581768
Molecular consequence:
  • NM_001037633.2:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022464.5:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000510991Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(Jan 2, 2017)
germlineclinical testing

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

SCV000843888Athena Diagnostics Inccriteria provided, single submitter
Benign
(Oct 18, 2017)
germlineclinical testing

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

Summary from all submissions

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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000510991.1

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

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.002538not providednot provided

From Athena Diagnostics Inc, SCV000843888.1

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

Last Updated: Sep 29, 2021

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