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NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2024
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:
RCV001774202.3

Allele description [Variation Report for NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)]

NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)

Gene:
FANCB:FA complementation group B [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)
HGVS:
  • NC_000023.11:g.14843578_14843582delinsACAGAATTATAAA
  • NG_007310.1:g.34481_34485delinsTTTATAATTCTGT
  • NM_001018113.3:c.2565_2569delinsTTTATAATTCTGTMANE SELECT
  • NM_001324162.2:c.2565_2569delinsTTTATAATTCTGT
  • NM_152633.4:c.2565_2569delinsTTTATAATTCTGT
  • NP_001018123.1:p.Lys855_Ser857delinsAsnLeuTer
  • NP_001311091.1:p.Lys855_Ser857delinsAsnLeuTer
  • NP_689846.1:p.Lys855_Ser857delinsAsnLeuTer
  • LRG_496t1:c.2565_2569delinsTTTATAATTCTGT
  • LRG_496:g.34481_34485delinsTTTATAATTCTGT
  • NC_000023.10:g.14861700_14861704delinsACAGAATTATAAA
  • NM_001018113.1:c.2565_2569delinsTTTATAATTCTGT
Links:
dbSNP: rs2147386189
NCBI 1000 Genomes Browser:
rs2147386189
Molecular consequence:
  • NM_001018113.3:c.2565_2569delinsTTTATAATTCTGT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001324162.2:c.2565_2569delinsTTTATAATTCTGT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152633.4:c.2565_2569delinsTTTATAATTCTGT - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001994737GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 5, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001994737.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation as the last 5 amino acids are lost and replaced with 2 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024