NM_000057.4(BLM):c.1968dup (p.Lys657fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001013870.1

Allele description [Variation Report for NM_000057.4(BLM):c.1968dup (p.Lys657fs)]

NM_000057.4(BLM):c.1968dup (p.Lys657fs)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
HGVS:
  • NC_000015.10:g.90763051dup
  • NG_007272.1:g.50680dup
  • NM_000057.4:c.1968dupMANE SELECT
  • NM_001287246.2:c.1968dup
  • NM_001287247.2:c.1968dup
  • NM_001287248.2:c.843dup
  • NP_000048.1:p.Lys657fs
  • NP_001274175.1:p.Lys657fs
  • NP_001274176.1:p.Lys657fs
  • NP_001274177.1:p.Lys282fs
  • LRG_20t1:c.1968dup
  • LRG_20:g.50680dup
  • NC_000015.9:g.91306280_91306281insG
  • NC_000015.9:g.91306281dup
  • NM_000057.2:c.1968dupG
  • NM_000057.3:c.1968dup
Protein change:
K282fs
Links:
dbSNP: rs772785079
NCBI 1000 Genomes Browser:
rs772785079
Molecular consequence:
  • NM_000057.4:c.1968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287246.2:c.1968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287247.2:c.1968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287248.2:c.843dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001174506Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 7, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA.

Hum Mutat. 2007 Aug;28(8):743-53.

PubMed [citation]
PMID:
17407155

Details of each submission

From Ambry Genetics, SCV001174506.2

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

Description

The c.1968dupG pathogenic mutation, located in coding exon 7 of the BLM gene, results from a duplication of G at nucleotide position 1968, causing a translational frameshift with a predicted alternate stop codon (p.K657Efs*5). This alteration has been reported in a cohort of 134 persons with Bloom syndrome (BS) from the Bloom's Syndrome Registry (German J et al. Hum. Mutat., 2007 Aug;28:743-53). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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