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NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 10, 2021
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:
RCV001805012.1

Allele description [Variation Report for NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)]

NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)

Genes:
LOC130009662:ATAC-STARR-seq lymphoblastoid silent region 5301 [Gene]
TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.11
Genomic location:
Preferred name:
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)
HGVS:
  • NC_000013.11:g.42574410C>G
  • NG_008990.1:g.16675C>G
  • NM_003701.4:c.107C>GMANE SELECT
  • NM_033012.4:c.-1+2672C>G
  • NP_003692.1:p.Pro36Arg
  • NC_000013.10:g.43148546C>G
  • NM_003701.3:c.107C>G
Protein change:
P36R
Links:
dbSNP: rs138818878
NCBI 1000 Genomes Browser:
rs138818878
Molecular consequence:
  • NM_033012.4:c.-1+2672C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003701.4:c.107C>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
SCV002050945Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Dec 10, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002050945.1

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

Last Updated: Sep 29, 2024