U.S. flag

An official website of the United States government

NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535498.10

Allele description [Variation Report for NM_002485.5(NBN):c.657_661del (p.Lys219fs)]

NM_002485.5(NBN):c.657_661del (p.Lys219fs)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
Other names:
657del5
HGVS:
  • NC_000008.10:g.90983445_90983449delGTTTT
  • NC_000008.11:g.89971217_89971221del
  • NG_008860.1:g.18454_18458del
  • NM_001024688.3:c.411_415del
  • NM_002485.5:c.657_661delMANE SELECT
  • NP_001019859.1:p.Lys137fs
  • NP_002476.2:p.Lys219fs
  • LRG_158:g.18454_18458del
  • NC_000008.10:g.90983442_90983446del
  • NC_000008.10:g.90983442_90983446delTTTGT
  • NC_000008.10:g.90983445_90983449del
  • NC_000008.10:g.90983445_90983449del
  • NC_000008.10:g.90983445_90983449delGTTTT
  • NM_002485.4:c.657_661delACAAA
  • NM_002485.5:c.657_661delACAAAMANE SELECT
  • NP_002476.2:p.Lys219AsnfsTer15
  • p.K219NFS*16
  • p.K219NfsX16
  • p.Lys219AsnfsX16
Protein change:
K137fs
Links:
OMIM: 602667.0001; dbSNP: rs587776650
NCBI 1000 Genomes Browser:
rs587776650
Molecular consequence:
  • NM_001024688.3:c.411_415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002485.5:c.657_661del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Microcephaly, normal intelligence and immunodeficiency (NBS)
Synonyms:
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009623; MedGen: C0398791; Orphanet: 647; OMIM: 251260

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749450GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749450.2

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

Description

Variant interpreted as Pathogenic and reported on 10-26-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Nov 3, 2024