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NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) AND not specified

Germline classification:
Benign (1 submission)
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:
RCV000242555.5

Allele description [Variation Report for NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)]

NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)

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.964G>A (p.Val322Ile)
HGVS:
  • NC_000001.11:g.243316789G>A
  • NG_027811.1:g.65785G>A
  • NM_001350246.2:c.61G>A
  • NM_001350247.2:c.61G>A
  • NM_001350248.2:c.1060G>A
  • NM_001350249.2:c.670G>A
  • NM_001350251.2:c.61G>A
  • NM_006642.5:c.964G>AMANE SELECT
  • NP_001337175.1:p.Val21Ile
  • NP_001337176.1:p.Val21Ile
  • NP_001337177.1:p.Val354Ile
  • NP_001337178.1:p.Val224Ile
  • NP_001337180.1:p.Val21Ile
  • NP_006633.1:p.Val322Ile
  • NC_000001.10:g.243480091G>A
  • NM_006642.3:c.964G>A
Protein change:
V21I
Links:
dbSNP: rs6672843
NCBI 1000 Genomes Browser:
rs6672843
Molecular consequence:
  • NM_001350246.2:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350247.2:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350248.2:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350249.2:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350251.2:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006642.5:c.964G>A - 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
SCV000311550PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000311550.1

#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, 2024