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NM_000059.4(BRCA2):c.221del (p.Leu74fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 23, 2014
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:
RCV000482232.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.221del (p.Leu74fs)]

NM_000059.4(BRCA2):c.221del (p.Leu74fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.221del (p.Leu74fs)
HGVS:
  • NC_000013.11:g.32319230del
  • NG_012772.3:g.8751del
  • NG_017006.2:g.1134del
  • NM_000059.4:c.221delMANE SELECT
  • NP_000050.2:p.Leu74fs
  • NP_000050.3:p.Leu74fs
  • LRG_293t1:c.221del
  • LRG_293:g.8751del
  • LRG_293p1:p.Leu74fs
  • NC_000013.10:g.32893367del
  • NM_000059.3:c.221del
  • NM_000059.3:c.221delT
  • p.(Leu74ArgfsTer6)
Protein change:
L74fs
Links:
dbSNP: rs1064793061
NCBI 1000 Genomes Browser:
rs1064793061
Molecular consequence:
  • NM_000059.4:c.221del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000564758GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 23, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000564758.3

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

Description

This deletion of one nucleotide in BRCA2 is denoted c.221delT at the cDNA level and p.Leu74ArgfsX6 (L74RfsX6) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAGC[T]GGCT. The deletion causes a frameshift, which changes a Leucine to an Arginine at codon 74, and creates a premature stop codon at position 6 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.

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

Last Updated: Sep 29, 2024