NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790917.2

Allele description [Variation Report for NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)]

NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)

Gene:
SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
HGVS:
  • NC_000001.11:g.243418006T>G
  • NG_027811.1:g.167002T>G
  • NM_001350246.1:c.880T>G
  • NM_001350247.1:c.880T>G
  • NM_001350248.1:c.1879T>G
  • NM_001350249.1:c.1489T>G
  • NM_001350251.1:c.880T>G
  • NM_006642.5:c.1783T>GMANE SELECT
  • NP_001337175.1:p.Phe294Val
  • NP_001337176.1:p.Phe294Val
  • NP_001337177.1:p.Phe627Val
  • NP_001337178.1:p.Phe497Val
  • NP_001337180.1:p.Phe294Val
  • NP_006633.1:p.Phe595Val
  • NC_000001.10:g.243581308T>G
  • NM_006642.3:c.1783T>G
  • NM_006642.4:c.1783T>G
Protein change:
F294V
Links:
dbSNP: rs776765317
NCBI 1000 Genomes Browser:
rs776765317
Molecular consequence:
  • NM_001350246.1:c.880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350247.1:c.880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350248.1:c.1879T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350249.1:c.1489T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350251.1:c.880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006642.5:c.1783T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000930164Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Uncertain significance
(Apr 27, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnonot 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 Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000930164.1

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

Last Updated: Sep 7, 2021

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