NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000240565.10

Allele description [Variation Report for NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)]

NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
HGVS:
  • NC_000002.12:g.166199716A>G
  • NG_012798.1:g.181272T>C
  • NM_001365536.1:c.4923T>CMANE SELECT
  • NM_002977.3:c.4890T>C
  • NP_001352465.1:p.Leu1641=
  • NP_002968.1:p.Leu1630=
  • LRG_369t1:c.4890T>C
  • LRG_369:g.181272T>C
  • LRG_369p1:p.Leu1630=
  • NC_000002.11:g.167056226A>G
  • NR_110260.1:n.509A>G
Links:
dbSNP: rs199550149
NCBI 1000 Genomes Browser:
rs199550149
Molecular consequence:
  • NR_110260.1:n.509A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001365536.1:c.4923T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002977.3:c.4890T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001152528CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Dec 1, 2020)
germlineclinical testing

Citation Link,

SCV001978368Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001979343Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152528.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001978368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001979343.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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