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NM_001083116.3(PRF1):c.726C>T (p.Cys242=) AND Lymphoma, non-Hodgkin, familial

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 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:
RCV003316377.1

Allele description [Variation Report for NM_001083116.3(PRF1):c.726C>T (p.Cys242=)]

NM_001083116.3(PRF1):c.726C>T (p.Cys242=)

Gene:
PRF1:perforin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_001083116.3(PRF1):c.726C>T (p.Cys242=)
HGVS:
  • NC_000010.11:g.70598995G>A
  • NG_009615.1:g.8781C>T
  • NM_001083116.3:c.726C>TMANE SELECT
  • NM_005041.4:c.726C>T
  • NM_005041.6:c.726C>T
  • NP_001076585.1:p.Cys242=
  • NP_005032.2:p.Cys242=
  • LRG_94t1:c.726C>T
  • LRG_94:g.8781C>T
  • NC_000010.10:g.72358751G>A
  • NM_001083116.1:c.726C>T
Links:
dbSNP: rs35329429
NCBI 1000 Genomes Browser:
rs35329429
Molecular consequence:
  • NM_001083116.3:c.726C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005041.6:c.726C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Lymphoma, non-Hodgkin, familial
Identifiers:
MONDO: MONDO:0011508; MedGen: C4721532; OMIM: 605027

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004017102KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004017102.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024