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NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Nov 29, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001706318.20

Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)]

NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)

Gene:
TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
HGVS:
  • NC_000012.12:g.6341779T>C
  • NG_007506.1:g.5317A>G
  • NM_001065.4:c.36A>GMANE SELECT
  • NM_001346091.2:c.-135A>G
  • NM_001346092.2:c.-542A>G
  • NP_001056.1:p.Pro12=
  • NP_001056.1:p.Pro12=
  • LRG_193t1:c.36A>G
  • LRG_193:g.5317A>G
  • LRG_193p1:p.Pro12=
  • NC_000012.11:g.6450945T>C
  • NM_001065.3:c.36A>G
  • NR_144351.2:n.298A>G
  • p.Pro12Pro
Links:
dbSNP: rs767455
NCBI 1000 Genomes Browser:
rs767455
Molecular consequence:
  • NM_001346091.2:c.-135A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001346092.2:c.-542A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_144351.2:n.298A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001065.4:c.36A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000605407ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 29, 2023)
germlineclinical testing

Citation Link,

SCV001896967GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link,

SCV002074810GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000605407.10

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

From GeneDx, SCV001896967.1

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

From GenomeConnect, ClinGen, SCV002074810.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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

Last Updated: Jul 15, 2024