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NM_000128.4(F11):c.155dup (p.Tyr52Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 12, 2022
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:
RCV003480752.1

Allele description [Variation Report for NM_000128.4(F11):c.155dup (p.Tyr52Ter)]

NM_000128.4(F11):c.155dup (p.Tyr52Ter)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.155dup (p.Tyr52Ter)
Other names:
p.Tyr52*
HGVS:
  • NC_000004.12:g.186271708dup
  • NG_008051.1:g.10745dup
  • NM_000128.3:c.155dup
  • NM_000128.4:c.155dupMANE SELECT
  • NM_001354804.2:c.155dup
  • NP_000119.1:p.Tyr52Ter
  • NP_001341733.1:p.Tyr52Ter
  • LRG_583t1:c.155dup
  • LRG_583:g.10745dup
  • NC_000004.11:g.187192862dup
  • NM_000128.3:c.155dupA
Protein change:
Y52*
Links:
dbSNP: rs1554081886
NCBI 1000 Genomes Browser:
rs1554081886
Molecular consequence:
  • NM_000128.4:c.155dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354804.2:c.155dup - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004227479Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 12, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Mayo Clinic Laboratories, Mayo Clinic, SCV004227479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

PM2, PVS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024