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NM_005631.5(SMO):c.1921C>G (p.Pro641Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 8, 2023
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:
RCV001795217.3

Allele description [Variation Report for NM_005631.5(SMO):c.1921C>G (p.Pro641Ala)]

NM_005631.5(SMO):c.1921C>G (p.Pro641Ala)

Gene:
SMO:smoothened, frizzled class receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_005631.5(SMO):c.1921C>G (p.Pro641Ala)
HGVS:
  • NC_000007.14:g.129211755C>G
  • NG_023340.2:g.27884C>G
  • NM_005631.5:c.1921C>GMANE SELECT
  • NP_005622.1:p.Pro641Ala
  • LRG_1393t1:c.1921C>G
  • LRG_1393:g.27884C>G
  • LRG_1393p1:p.Pro641Ala
  • NC_000007.13:g.128851596C>G
  • NG_023340.1:g.27884C>G
  • NM_005631.4:c.1921C>G
Protein change:
P641A
Links:
dbSNP: rs146200641
NCBI 1000 Genomes Browser:
rs146200641
Molecular consequence:
  • NM_005631.5:c.1921C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002032684GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 8, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002032684.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in families with variable cancer phenotypes including medulloblastoma, nonsmall-cell lung cancer, and colorectal cancer; suggested as a cancer susceptibility variant (Kool et al., 2014; Tsao et al., 2017; Toma et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Tsao2017[Abstract], Tsao2017[CaseReport], 24728327, 24651015, 31525256, 27535533)

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

Last Updated: Jun 17, 2023